SNP Links for Protein (Select 58219054) - SNP

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Links from Protein

Items: 1 to 20 of 160

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Select item 14902075071.

rs1490207507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113886621 (GRCh38)
1:114429243 (GRCh37)
Canonical SPDI:: NC_000001.11:113886620:A:G
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.113886621A>G, NC_000001.10:g.114429243A>G, NM_001010922.3:c.165T>C, NM_001010922.2:c.165T>C, NM_001029944.1:c.165T>C

Select item 14743179762.

rs1474317976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113886560 (GRCh38)
1:114429182 (GRCh37)
Canonical SPDI:: NC_000001.11:113886559:T:C
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113886560T>C, NC_000001.10:g.114429182T>C, NM_001010922.3:c.226A>G, NM_001010922.2:c.226A>G, NM_001029944.1:c.226A>G, NP_001010922.1:p.Ile76Val

Select item 14712834693.

rs1471283469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:113887321 (GRCh38)
1:114429943 (GRCh37)
Canonical SPDI:: NC_000001.11:113887320:G:C,NC_000001.11:113887320:G:T
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.113887321G>C, NC_000001.11:g.113887321G>T, NC_000001.10:g.114429943G>C, NC_000001.10:g.114429943G>T, NM_001010922.3:c.55C>G, NM_001010922.3:c.55C>A, NM_001010922.2:c.55C>G, NM_001010922.2:c.55C>A, NM_001029944.1:c.55C>G, NM_001029944.1:c.55C>A, NM_001029946.1:c.55C>G, NM_001029946.1:c.55C>A, NM_001029945.1:c.55C>G, NM_001029945.1:c.55C>A, NP_001010922.1:p.Leu19Val, NP_001010922.1:p.Leu19Ile

Select item 14709523114.

rs1470952311 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATAG>- [Show Flanks]
Chromosome:: 1:113887272 (GRCh38)
1:114429894 (GRCh37)
Canonical SPDI:: NC_000001.11:113887269:AGCATAG:AG
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.113887272_113887276del, NC_000001.10:g.114429894_114429898del, NM_001010922.3:c.102_106del, NM_001010922.2:c.102_106del, NM_001029944.1:c.102_106del, NM_001029946.1:c.102_106del, NM_001029945.1:c.102_106del, NP_001010922.1:p.Cys36fs

Select item 14505718945.

rs1450571894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113881880 (GRCh38)
1:114424502 (GRCh37)
Canonical SPDI:: NC_000001.11:113881879:T:C
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.113881880T>C, NC_000001.10:g.114424502T>C, NM_001010922.3:c.367A>G, NM_001010922.2:c.367A>G, NP_001010922.1:p.Met123Val

Select item 14487550086.

rs1448755008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113881913 (GRCh38)
1:114424535 (GRCh37)
Canonical SPDI:: NC_000001.11:113881912:A:G
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113881913A>G, NC_000001.10:g.114424535A>G, NM_001010922.3:c.334T>C, NM_001010922.2:c.334T>C, NP_001010922.1:p.Phe112Leu

Select item 14478764187.

rs1447876418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113887277 (GRCh38)
1:114429899 (GRCh37)
Canonical SPDI:: NC_000001.11:113887276:G:A
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113887277G>A, NC_000001.10:g.114429899G>A, NM_001010922.3:c.99C>T, NM_001010922.2:c.99C>T, NM_001029944.1:c.99C>T, NM_001029946.1:c.99C>T, NM_001029945.1:c.99C>T

Select item 14285485498.

rs1428548549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:113886570 (GRCh38)
1:114429192 (GRCh37)
Canonical SPDI:: NC_000001.11:113886569:G:A
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.113886570G>A, NC_000001.10:g.114429192G>A, NM_001010922.3:c.216C>T, NM_001010922.2:c.216C>T, NM_001029944.1:c.216C>T

Select item 14216198449.

rs1421619844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:113881902 (GRCh38)
1:114424524 (GRCh37)
Canonical SPDI:: NC_000001.11:113881901:C:A
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113881902C>A, NC_000001.10:g.114424524C>A, NM_001010922.3:c.345G>T, NM_001010922.2:c.345G>T

Select item 141790802010.

rs1417908020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:113881814 (GRCh38)
1:114424436 (GRCh37)
Canonical SPDI:: NC_000001.11:113881813:T:A
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113881814T>A, NC_000001.10:g.114424436T>A, NM_001010922.3:c.433A>T, NM_001010922.2:c.433A>T, NP_001010922.1:p.Asn145Tyr

Select item 141649103811.

rs1416491038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:113881866 (GRCh38)
1:114424488 (GRCh37)
Canonical SPDI:: NC_000001.11:113881865:A:G,NC_000001.11:113881865:A:T
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.113881866A>G, NC_000001.11:g.113881866A>T, NC_000001.10:g.114424488A>G, NC_000001.10:g.114424488A>T, NM_001010922.3:c.381T>C, NM_001010922.3:c.381T>A, NM_001010922.2:c.381T>C, NM_001010922.2:c.381T>A

Select item 140680406412.

rs1406804064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:113886573 (GRCh38)
1:114429195 (GRCh37)
Canonical SPDI:: NC_000001.11:113886572:A:G
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113886573A>G, NC_000001.10:g.114429195A>G, NM_001010922.3:c.213T>C, NM_001010922.2:c.213T>C, NM_001029944.1:c.213T>C

Select item 140348250313.

rs1403482503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:113887257 (GRCh38)
1:114429879 (GRCh37)
Canonical SPDI:: NC_000001.11:113887256:A:T
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113887257A>T, NC_000001.10:g.114429879A>T, NM_001010922.3:c.119T>A, NM_001010922.2:c.119T>A, NM_001029944.1:c.119T>A, NM_001029946.1:c.119T>A, NM_001029945.1:c.119T>A, NP_001010922.1:p.Val40Glu

Select item 138032413614.

rs1380324136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113881919 (GRCh38)
1:114424541 (GRCh37)
Canonical SPDI:: NC_000001.11:113881918:T:C
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.113881919T>C, NC_000001.10:g.114424541T>C, NM_001010922.3:c.328A>G, NM_001010922.2:c.328A>G, NP_001010922.1:p.Arg110Gly

Select item 136663224415.

rs1366632244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:113881853 (GRCh38)
1:114424475 (GRCh37)
Canonical SPDI:: NC_000001.11:113881852:C:T
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.113881853C>T, NC_000001.10:g.114424475C>T, NM_001010922.3:c.394G>A, NM_001010922.2:c.394G>A, NP_001010922.1:p.Gly132Arg

Select item 135534561616.

rs1355345616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:113881934 (GRCh38)
1:114424556 (GRCh37)
Canonical SPDI:: NC_000001.11:113881933:T:C
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
C=0.001369/4 (KOREAN)
HGVS:: NC_000001.11:g.113881934T>C, NC_000001.10:g.114424556T>C, NM_001010922.3:c.313A>G, NM_001010922.2:c.313A>G, NM_001029945.1:c.191A>G, NP_001010922.1:p.Ser105Gly

Select item 135195994217.

rs1351959942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:113881823 (GRCh38)
1:114424445 (GRCh37)
Canonical SPDI:: NC_000001.11:113881822:T:G
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.113881823T>G, NC_000001.10:g.114424445T>G, NM_001010922.3:c.424A>C, NM_001010922.2:c.424A>C, NP_001010922.1:p.Ile142Leu

Select item 134465471918.

rs1344654719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:113881908 (GRCh38)
1:114424530 (GRCh37)
Canonical SPDI:: NC_000001.11:113881907:C:T
Gene:: BCL2L15 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.113881908C>T, NC_000001.10:g.114424530C>T, NM_001010922.3:c.339G>A, NM_001010922.2:c.339G>A