SNP Links for Protein (Select 4505237) - SNP

Select item 14820502911.

rs1482050291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:154792144 (GRCh38)
X:154020419 (GRCh37)
Canonical SPDI:: NC_000023.11:154792143:T:A,NC_000023.11:154792143:T:C
Gene:: MPP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.154792144T>A, NC_000023.11:g.154792144T>C, NW_003871103.3:g.2226123T>A, NW_003871103.3:g.2226123T>C, NG_015873.1:g.18384A>T, NG_015873.1:g.18384A>G, NM_002436.4:c.244A>T, NM_002436.4:c.244A>G, NM_002436.3:c.244A>T, NM_002436.3:c.244A>G, NM_001166462.2:c.154A>T, NM_001166462.2:c.154A>G, NM_001166462.1:c.154A>T, NM_001166462.1:c.154A>G, NM_001166461.2:c.244A>T, NM_001166461.2:c.244A>G, NM_001166461.1:c.244A>T, NM_001166461.1:c.244A>G, NC_000023.10:g.154020419T>A, NC_000023.10:g.154020419T>C, XM_011531167.2:c.244A>T, XM_011531167.2:c.244A>G, XM_011531167.1:c.244A>T, XM_011531167.1:c.244A>G, XM_047442123.1:c.106A>T, XM_047442123.1:c.106A>G, XM_047442124.1:c.154A>T, XM_047442124.1:c.154A>G, NP_002427.1:p.Met82Leu, NP_002427.1:p.Met82Val, NP_001159934.1:p.Met52Leu, NP_001159934.1:p.Met52Val, NP_001159933.1:p.Met82Leu, NP_001159933.1:p.Met82Val, XP_011529469.1:p.Met82Leu, XP_011529469.1:p.Met82Val, XP_047298079.1:p.Met36Leu, XP_047298079.1:p.Met36Val, XP_047298080.1:p.Met52Leu, XP_047298080.1:p.Met52Val

Select item 14808170302.

rs1480817030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:154783502 (GRCh38)
X:154011777 (GRCh37)
Canonical SPDI:: NC_000023.11:154783501:T:G
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154783502T>G, NW_003871103.3:g.2217481T>G, NG_015873.1:g.27026A>C, NM_002436.4:c.871A>C, NM_002436.3:c.871A>C, NM_001166462.2:c.781A>C, NM_001166462.1:c.781A>C, NM_001166460.2:c.820A>C, NM_001166460.1:c.820A>C, NM_001166461.2:c.811A>C, NM_001166461.1:c.811A>C, NC_000023.10:g.154011777T>G, XM_011531167.2:c.790A>C, XM_011531167.1:c.790A>C, XM_011531169.2:c.493A>C, XM_011531169.1:c.493A>C, XM_024452385.2:c.412A>C, XM_024452385.1:c.412A>C, XM_047442123.1:c.733A>C, XM_047442124.1:c.700A>C, NP_002427.1:p.Ser291Arg, NP_001159934.1:p.Ser261Arg, NP_001159932.1:p.Ser274Arg, NP_001159933.1:p.Ser271Arg, XP_011529469.1:p.Ser264Arg, XP_011529471.1:p.Ser165Arg, XP_024308153.1:p.Ser138Arg, XP_047298079.1:p.Ser245Arg, XP_047298080.1:p.Ser234Arg

Select item 14672075493.

rs1467207549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154786364 (GRCh38)
X:154014639 (GRCh37)
Canonical SPDI:: NC_000023.11:154786363:T:C
Gene:: MPP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154786364T>C, NW_003871103.3:g.2220343T>C, NG_015873.1:g.24164A>G, NM_002436.4:c.517A>G, NM_002436.3:c.517A>G, NM_001166462.2:c.427A>G, NM_001166462.1:c.427A>G, NM_001166460.2:c.466A>G, NM_001166460.1:c.466A>G, NC_000023.10:g.154014639T>C, XM_011531167.2:c.517A>G, XM_011531167.1:c.517A>G, XM_011531169.2:c.139A>G, XM_011531169.1:c.139A>G, XM_024452385.2:c.139A>G, XM_024452385.1:c.139A>G, XM_047442123.1:c.379A>G, XM_047442124.1:c.427A>G, NP_002427.1:p.Lys173Glu, NP_001159934.1:p.Lys143Glu, NP_001159932.1:p.Lys156Glu, XP_011529469.1:p.Lys173Glu, XP_011529471.1:p.Lys47Glu, XP_024308153.1:p.Lys47Glu, XP_047298079.1:p.Lys127Glu, XP_047298080.1:p.Lys143Glu

Select item 14639690314.

rs1463969031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154785058 (GRCh38)
X:154013333 (GRCh37)
Canonical SPDI:: NC_000023.11:154785057:G:A
Gene:: MPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154785058G>A, NW_003871103.3:g.2219037G>A, NG_015873.1:g.25470C>T, NM_002436.4:c.777C>T, NM_002436.3:c.777C>T, NM_001166462.2:c.687C>T, NM_001166462.1:c.687C>T, NM_001166460.2:c.726C>T, NM_001166460.1:c.726C>T, NM_001166461.2:c.717C>T, NM_001166461.1:c.717C>T, NC_000023.10:g.154013333G>A, XM_011531167.2:c.777C>T, XM_011531167.1:c.777C>T, XM_011531169.2:c.399C>T, XM_011531169.1:c.399C>T, XM_024452385.2:c.399C>T, XM_024452385.1:c.399C>T, XM_047442123.1:c.639C>T, XM_047442124.1:c.687C>T

Select item 14503686105.

rs1450368610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:154792249 (GRCh38)
X:154020524 (GRCh37)
Canonical SPDI:: NC_000023.11:154792248:T:A
Gene:: MPP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154792249T>A, NW_003871103.3:g.2226228T>A, NG_015873.1:g.18279A>T, NM_002436.4:c.139A>T, NM_002436.3:c.139A>T, NM_001166462.2:c.49A>T, NM_001166462.1:c.49A>T, NM_001166460.2:c.139A>T, NM_001166460.1:c.139A>T, NM_001166461.2:c.139A>T, NM_001166461.1:c.139A>T, NC_000023.10:g.154020524T>A, XM_011531167.2:c.139A>T, XM_011531167.1:c.139A>T, XM_047442123.1:c.1A>T, XM_047442124.1:c.49A>T, NP_002427.1:p.Met47Leu, NP_001159934.1:p.Met17Leu, NP_001159932.1:p.Met47Leu, NP_001159933.1:p.Met47Leu, XP_011529469.1:p.Met47Leu, XP_047298079.1:p.Met1Leu, XP_047298080.1:p.Met17Leu

Select item 14503036736.

rs1450303673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:154781301 (GRCh38)
X:154009576 (GRCh37)
Canonical SPDI:: NC_000023.11:154781300:C:A
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.154781301C>A, NW_003871103.3:g.2215280C>A, NG_015873.1:g.29227G>T, NM_002436.4:c.1162G>T, NM_002436.3:c.1162G>T, NM_001166462.2:c.1072G>T, NM_001166462.1:c.1072G>T, NM_001166460.2:c.1111G>T, NM_001166460.1:c.1111G>T, NM_001166461.2:c.1102G>T, NM_001166461.1:c.1102G>T, NC_000023.10:g.154009576C>A, XM_011531167.2:c.1081G>T, XM_011531167.1:c.1081G>T, XM_011531169.2:c.784G>T, XM_011531169.1:c.784G>T, XM_024452385.2:c.703G>T, XM_024452385.1:c.703G>T, XM_047442123.1:c.1024G>T, XM_047442124.1:c.991G>T, NP_002427.1:p.Val388Phe, NP_001159934.1:p.Val358Phe, NP_001159932.1:p.Val371Phe, NP_001159933.1:p.Val368Phe, XP_011529469.1:p.Val361Phe, XP_011529471.1:p.Val262Phe, XP_024308153.1:p.Val235Phe, XP_047298079.1:p.Val342Phe, XP_047298080.1:p.Val331Phe

Select item 14267974697.

rs1426797469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:154805345 (GRCh38)
X:154033620 (GRCh37)
Canonical SPDI:: NC_000023.11:154805344:C:G
Gene:: MPP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.154805345C>G, NW_003871103.3:g.2239324C>G, NG_015873.1:g.5183G>C, NM_002436.4:c.29G>C, NM_002436.3:c.29G>C, NM_001166462.2:c.-211G>C, NM_001166462.1:c.-211G>C, NM_001166460.2:c.29G>C, NM_001166460.1:c.29G>C, NM_001166461.2:c.29G>C, NM_001166461.1:c.29G>C, NC_000023.10:g.154033620C>G, XM_011531167.2:c.29G>C, XM_011531167.1:c.29G>C, XM_011531169.2:c.29G>C, XM_011531169.1:c.29G>C, XM_024452385.2:c.29G>C, XM_024452385.1:c.29G>C, XM_047442123.1:c.-241G>C, XM_047442124.1:c.-211G>C, NP_002427.1:p.Ser10Thr, NP_001159932.1:p.Ser10Thr, NP_001159933.1:p.Ser10Thr, XP_011529469.1:p.Ser10Thr, XP_011529471.1:p.Ser10Thr, XP_024308153.1:p.Ser10Thr

Select item 14218048858.

rs1421804885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154786386 (GRCh38)
X:154014661 (GRCh37)
Canonical SPDI:: NC_000023.11:154786385:C:T
Gene:: MPP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.154786386C>T, NW_003871103.3:g.2220365C>T, NG_015873.1:g.24142G>A, NM_002436.4:c.495G>A, NM_002436.3:c.495G>A, NM_001166462.2:c.405G>A, NM_001166462.1:c.405G>A, NM_001166460.2:c.444G>A, NM_001166460.1:c.444G>A, NC_000023.10:g.154014661C>T, XM_011531167.2:c.495G>A, XM_011531167.1:c.495G>A, XM_011531169.2:c.117G>A, XM_011531169.1:c.117G>A, XM_024452385.2:c.117G>A, XM_024452385.1:c.117G>A, XM_047442123.1:c.357G>A, XM_047442124.1:c.405G>A

Select item 14157797419.

rs1415779741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:154805344 (GRCh38)
X:154033619 (GRCh37)
Canonical SPDI:: NC_000023.11:154805343:A:C
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.154805344A>C, NW_003871103.3:g.2239323A>C, NG_015873.1:g.5184T>G, NM_002436.4:c.30T>G, NM_002436.3:c.30T>G, NM_001166462.2:c.-210T>G, NM_001166462.1:c.-210T>G, NM_001166460.2:c.30T>G, NM_001166460.1:c.30T>G, NM_001166461.2:c.30T>G, NM_001166461.1:c.30T>G, NC_000023.10:g.154033619A>C, XM_011531167.2:c.30T>G, XM_011531167.1:c.30T>G, XM_011531169.2:c.30T>G, XM_011531169.1:c.30T>G, XM_024452385.2:c.30T>G, XM_024452385.1:c.30T>G, XM_047442123.1:c.-240T>G, XM_047442124.1:c.-210T>G, NP_002427.1:p.Ser10Arg, NP_001159932.1:p.Ser10Arg, NP_001159933.1:p.Ser10Arg, XP_011529469.1:p.Ser10Arg, XP_011529471.1:p.Ser10Arg, XP_024308153.1:p.Ser10Arg

Select item 141361615810.

rs1413616158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:154805366 (GRCh38)
X:154033642 (GRCh37)
Canonical SPDI:: NC_000023.11:154805366:GGG:GGGG
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154805369dup, NW_003871103.3:g.2239348dup, NG_015873.1:g.5161dup, NM_002436.4:c.7dup, NM_002436.3:c.7dup, NM_001166462.2:c.-233dup, NM_001166462.1:c.-233dup, NM_001166460.2:c.7dup, NM_001166460.1:c.7dup, NM_001166461.2:c.7dup, NM_001166461.1:c.7dup, NC_000023.10:g.154033644dup, XM_011531167.2:c.7dup, XM_011531167.1:c.7dup, XM_011531169.2:c.7dup, XM_011531169.1:c.7dup, XM_024452385.2:c.7dup, XM_024452385.1:c.7dup, XM_047442123.1:c.-263dup, XM_047442124.1:c.-233dup, NP_002427.1:p.Leu3fs, NP_001159932.1:p.Leu3fs, NP_001159933.1:p.Leu3fs, XP_011529469.1:p.Leu3fs, XP_011529471.1:p.Leu3fs, XP_024308153.1:p.Leu3fs

Select item 141313223811.

rs1413132238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154786208 (GRCh38)
X:154014483 (GRCh37)
Canonical SPDI:: NC_000023.11:154786207:C:T
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.154786208C>T, NW_003871103.3:g.2220187C>T, NG_015873.1:g.24320G>A, NM_002436.4:c.673G>A, NM_002436.3:c.673G>A, NM_001166462.2:c.583G>A, NM_001166462.1:c.583G>A, NM_001166460.2:c.622G>A, NM_001166460.1:c.622G>A, NM_001166461.2:c.613G>A, NM_001166461.1:c.613G>A, NC_000023.10:g.154014483C>T, XM_011531167.2:c.673G>A, XM_011531167.1:c.673G>A, XM_011531169.2:c.295G>A, XM_011531169.1:c.295G>A, XM_024452385.2:c.295G>A, XM_024452385.1:c.295G>A, XM_047442123.1:c.535G>A, XM_047442124.1:c.583G>A, NP_002427.1:p.Glu225Lys, NP_001159934.1:p.Glu195Lys, NP_001159932.1:p.Glu208Lys, NP_001159933.1:p.Glu205Lys, XP_011529469.1:p.Glu225Lys, XP_011529471.1:p.Glu99Lys, XP_024308153.1:p.Glu99Lys, XP_047298079.1:p.Glu179Lys, XP_047298080.1:p.Glu195Lys

Select item 140715552112.

rs1407155521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154781272 (GRCh38)
X:154009547 (GRCh37)
Canonical SPDI:: NC_000023.11:154781271:A:G
Gene:: MPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154781272A>G, NW_003871103.3:g.2215251A>G, NG_015873.1:g.29256T>C, NM_002436.4:c.1191T>C, NM_002436.3:c.1191T>C, NM_001166462.2:c.1101T>C, NM_001166462.1:c.1101T>C, NM_001166460.2:c.1140T>C, NM_001166460.1:c.1140T>C, NM_001166461.2:c.1131T>C, NM_001166461.1:c.1131T>C, NC_000023.10:g.154009547A>G, XM_011531167.2:c.1110T>C, XM_011531167.1:c.1110T>C, XM_011531169.2:c.813T>C, XM_011531169.1:c.813T>C, XM_024452385.2:c.732T>C, XM_024452385.1:c.732T>C, XM_047442123.1:c.1053T>C, XM_047442124.1:c.1020T>C

Select item 140269970813.

rs1402699708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:154783442 (GRCh38)
X:154011717 (GRCh37)
Canonical SPDI:: NC_000023.11:154783441:C:G
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154783442C>G, NW_003871103.3:g.2217421C>G, NG_015873.1:g.27086G>C, NM_002436.4:c.931G>C, NM_002436.3:c.931G>C, NM_001166462.2:c.841G>C, NM_001166462.1:c.841G>C, NM_001166460.2:c.880G>C, NM_001166460.1:c.880G>C, NM_001166461.2:c.871G>C, NM_001166461.1:c.871G>C, NC_000023.10:g.154011717C>G, XM_011531167.2:c.850G>C, XM_011531167.1:c.850G>C, XM_011531169.2:c.553G>C, XM_011531169.1:c.553G>C, XM_024452385.2:c.472G>C, XM_024452385.1:c.472G>C, XM_047442123.1:c.793G>C, XM_047442124.1:c.760G>C, NP_002427.1:p.Val311Leu, NP_001159934.1:p.Val281Leu, NP_001159932.1:p.Val294Leu, NP_001159933.1:p.Val291Leu, XP_011529469.1:p.Val284Leu, XP_011529471.1:p.Val185Leu, XP_024308153.1:p.Val158Leu, XP_047298079.1:p.Val265Leu, XP_047298080.1:p.Val254Leu

Select item 139981428314.

rs1399814283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154786325 (GRCh38)
X:154014600 (GRCh37)
Canonical SPDI:: NC_000023.11:154786324:A:G
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154786325A>G, NW_003871103.3:g.2220304A>G, NG_015873.1:g.24203T>C, NM_002436.4:c.556T>C, NM_002436.3:c.556T>C, NM_001166462.2:c.466T>C, NM_001166462.1:c.466T>C, NM_001166460.2:c.505T>C, NM_001166460.1:c.505T>C, NM_001166461.2:c.496T>C, NM_001166461.1:c.496T>C, NC_000023.10:g.154014600A>G, XM_011531167.2:c.556T>C, XM_011531167.1:c.556T>C, XM_011531169.2:c.178T>C, XM_011531169.1:c.178T>C, XM_024452385.2:c.178T>C, XM_024452385.1:c.178T>C, XM_047442123.1:c.418T>C, XM_047442124.1:c.466T>C, NP_002427.1:p.Phe186Leu, NP_001159934.1:p.Phe156Leu, NP_001159932.1:p.Phe169Leu, NP_001159933.1:p.Phe166Leu, XP_011529469.1:p.Phe186Leu, XP_011529471.1:p.Phe60Leu, XP_024308153.1:p.Phe60Leu, XP_047298079.1:p.Phe140Leu, XP_047298080.1:p.Phe156Leu

Select item 139828948815.

rs1398289488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154785070 (GRCh38)
X:154013345 (GRCh37)
Canonical SPDI:: NC_000023.11:154785069:A:G
Gene:: MPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154785070A>G, NW_003871103.3:g.2219049A>G, NG_015873.1:g.25458T>C, NM_002436.4:c.765T>C, NM_002436.3:c.765T>C, NM_001166462.2:c.675T>C, NM_001166462.1:c.675T>C, NM_001166460.2:c.714T>C, NM_001166460.1:c.714T>C, NM_001166461.2:c.705T>C, NM_001166461.1:c.705T>C, NC_000023.10:g.154013345A>G, XM_011531167.2:c.765T>C, XM_011531167.1:c.765T>C, XM_011531169.2:c.387T>C, XM_011531169.1:c.387T>C, XM_024452385.2:c.387T>C, XM_024452385.1:c.387T>C, XM_047442123.1:c.627T>C, XM_047442124.1:c.675T>C

Select item 139105547616.

rs1391055476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154792282 (GRCh38)
X:154020557 (GRCh37)
Canonical SPDI:: NC_000023.11:154792281:C:T
Gene:: MPP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154792282C>T, NW_003871103.3:g.2226261C>T, NG_015873.1:g.18246G>A, NM_002436.4:c.106G>A, NM_002436.3:c.106G>A, NM_001166462.2:c.16G>A, NM_001166462.1:c.16G>A, NM_001166460.2:c.106G>A, NM_001166460.1:c.106G>A, NM_001166461.2:c.106G>A, NM_001166461.1:c.106G>A, NC_000023.10:g.154020557C>T, XM_011531167.2:c.106G>A, XM_011531167.1:c.106G>A, XM_047442123.1:c.-33G>A, XM_047442124.1:c.16G>A, NP_002427.1:p.Val36Ile, NP_001159934.1:p.Val6Ile, NP_001159932.1:p.Val36Ile, NP_001159933.1:p.Val36Ile, XP_011529469.1:p.Val36Ile, XP_047298080.1:p.Val6Ile

Select item 138853075917.

rs1388530759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154781251 (GRCh38)
X:154009526 (GRCh37)
Canonical SPDI:: NC_000023.11:154781250:G:A
Gene:: MPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.154781251G>A, NW_003871103.3:g.2215230G>A, NG_015873.1:g.29277C>T, NM_002436.4:c.1212C>T, NM_002436.3:c.1212C>T, NM_001166462.2:c.1122C>T, NM_001166462.1:c.1122C>T, NM_001166460.2:c.1161C>T, NM_001166460.1:c.1161C>T, NM_001166461.2:c.1152C>T, NM_001166461.1:c.1152C>T, NC_000023.10:g.154009526G>A, XM_011531167.2:c.1131C>T, XM_011531167.1:c.1131C>T, XM_011531169.2:c.834C>T, XM_011531169.1:c.834C>T, XM_024452385.2:c.753C>T, XM_024452385.1:c.753C>T, XM_047442123.1:c.1074C>T, XM_047442124.1:c.1041C>T

Select item 138505112518.

rs1385051125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:154781605 (GRCh38)
X:154009880 (GRCh37)
Canonical SPDI:: NC_000023.11:154781604:G:A,NC_000023.11:154781604:G:T
Gene:: MPP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154781605G>A, NC_000023.11:g.154781605G>T, NW_003871103.3:g.2215584G>A, NW_003871103.3:g.2215584G>T, NG_015873.1:g.28923C>T, NG_015873.1:g.28923C>A, NM_002436.4:c.1144C>T, NM_002436.4:c.1144C>A, NM_002436.3:c.1144C>T, NM_002436.3:c.1144C>A, NM_001166462.2:c.1054C>T, NM_001166462.2:c.1054C>A, NM_001166462.1:c.1054C>T, NM_001166462.1:c.1054C>A, NM_001166460.2:c.1093C>T, NM_001166460.2:c.1093C>A, NM_001166460.1:c.1093C>T, NM_001166460.1:c.1093C>A, NM_001166461.2:c.1084C>T, NM_001166461.2:c.1084C>A, NM_001166461.1:c.1084C>T, NM_001166461.1:c.1084C>A, NC_000023.10:g.154009880G>A, NC_000023.10:g.154009880G>T, XM_011531167.2:c.1063C>T, XM_011531167.2:c.1063C>A, XM_011531167.1:c.1063C>T, XM_011531167.1:c.1063C>A, XM_011531169.2:c.766C>T, XM_011531169.2:c.766C>A, XM_011531169.1:c.766C>T, XM_011531169.1:c.766C>A, XM_024452385.2:c.685C>T, XM_024452385.2:c.685C>A, XM_024452385.1:c.685C>T, XM_024452385.1:c.685C>A, XM_047442123.1:c.1006C>T, XM_047442123.1:c.1006C>A, XM_047442124.1:c.973C>T, XM_047442124.1:c.973C>A, NP_002427.1:p.Pro382Ser, NP_002427.1:p.Pro382Thr, NP_001159934.1:p.Pro352Ser, NP_001159934.1:p.Pro352Thr, NP_001159932.1:p.Pro365Ser, NP_001159932.1:p.Pro365Thr, NP_001159933.1:p.Pro362Ser, NP_001159933.1:p.Pro362Thr, XP_011529469.1:p.Pro355Ser, XP_011529469.1:p.Pro355Thr, XP_011529471.1:p.Pro256Ser, XP_011529471.1:p.Pro256Thr, XP_024308153.1:p.Pro229Ser, XP_024308153.1:p.Pro229Thr, XP_047298079.1:p.Pro336Ser, XP_047298079.1:p.Pro336Thr, XP_047298080.1:p.Pro325Ser, XP_047298080.1:p.Pro325Thr

Select item 137185004719.

rs1371850047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154783470 (GRCh38)
X:154011745 (GRCh37)
Canonical SPDI:: NC_000023.11:154783469:G:A
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.154783470G>A, NW_003871103.3:g.2217449G>A, NG_015873.1:g.27058C>T, NM_002436.4:c.903C>T, NM_002436.3:c.903C>T, NM_001166462.2:c.813C>T, NM_001166462.1:c.813C>T, NM_001166460.2:c.852C>T, NM_001166460.1:c.852C>T, NM_001166461.2:c.843C>T, NM_001166461.1:c.843C>T, NC_000023.10:g.154011745G>A, XM_011531167.2:c.822C>T, XM_011531167.1:c.822C>T, XM_011531169.2:c.525C>T, XM_011531169.1:c.525C>T, XM_024452385.2:c.444C>T, XM_024452385.1:c.444C>T, XM_047442123.1:c.765C>T, XM_047442124.1:c.732C>T

Select item 135750490120.

rs1357504901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:154792253 (GRCh38)
X:154020528 (GRCh37)
Canonical SPDI:: NC_000023.11:154792252:C:A
Gene:: MPP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154792253C>A, NW_003871103.3:g.2226232C>A, NG_015873.1:g.18275G>T, NM_002436.4:c.135G>T, NM_002436.3:c.135G>T, NM_001166462.2:c.45G>T, NM_001166462.1:c.45G>T, NM_001166460.2:c.135G>T, NM_001166460.1:c.135G>T, NM_001166461.2:c.135G>T, NM_001166461.1:c.135G>T, NC_000023.10:g.154020528C>A, XM_011531167.2:c.135G>T, XM_011531167.1:c.135G>T, XM_047442123.1:c.-4G>T, XM_047442124.1:c.45G>T, NP_002427.1:p.Glu45Asp, NP_001159934.1:p.Glu15Asp, NP_001159932.1:p.Glu45Asp, NP_001159933.1:p.Glu45Asp, XP_011529469.1:p.Glu45Asp, XP_047298080.1:p.Glu15Asp

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