SNP Links for Protein (Select 519666811) - SNP

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Links from Protein

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Select item 14858261531.

rs1485826153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:5099782 (GRCh38)
Y:4967823 (GRCh37)
Canonical SPDI:: NC_000024.10:5099781:A:G
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
G=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099782A>G, NC_000024.9:g.4967823A>G, NG_011652.1:g.104557A>G, NM_032972.3:c.2204A>G, NM_032972.2:c.2204A>G, NM_032971.3:c.2171A>G, NM_032971.2:c.2171A>G, NM_032973.2:c.2204A>G, NM_001278619.2:c.2171A>G, NM_001278619.1:c.2171A>G, NM_001395587.1:c.1928A>G, XM_017030079.2:c.2171A>G, XM_017030079.1:c.2171A>G, XM_017030080.2:c.2171A>G, XM_017030080.1:c.2171A>G, XM_017030081.2:c.2171A>G, XM_017030081.1:c.2171A>G, NP_116754.1:p.Asn735Ser, NP_116753.1:p.Asn724Ser, NP_116755.1:p.Asn735Ser, NP_001265548.1:p.Asn724Ser, NP_001382516.1:p.Asn643Ser, XP_016885568.1:p.Asn724Ser, XP_016885569.1:p.Asn724Ser, XP_016885570.1:p.Asn724Ser

Select item 14848485172.

rs1484848517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:5098918 (GRCh38)
Y:4966959 (GRCh37)
Canonical SPDI:: NC_000024.10:5098917:A:G
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5098918A>G, NC_000024.9:g.4966959A>G, NG_011652.1:g.103693A>G, NM_032972.3:c.1340A>G, NM_032972.2:c.1340A>G, NM_032971.3:c.1307A>G, NM_032971.2:c.1307A>G, NM_032973.2:c.1340A>G, NM_001278619.2:c.1307A>G, NM_001278619.1:c.1307A>G, NM_001395587.1:c.1064A>G, XM_017030079.2:c.1307A>G, XM_017030079.1:c.1307A>G, XM_017030080.2:c.1307A>G, XM_017030080.1:c.1307A>G, XM_017030081.2:c.1307A>G, XM_017030081.1:c.1307A>G, NP_116754.1:p.Gln447Arg, NP_116753.1:p.Gln436Arg, NP_116755.1:p.Gln447Arg, NP_001265548.1:p.Gln436Arg, NP_001382516.1:p.Gln355Arg, XP_016885568.1:p.Gln436Arg, XP_016885569.1:p.Gln436Arg, XP_016885570.1:p.Gln436Arg

Select item 14847159413.

rs1484715941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:5099079 (GRCh38)
Y:4967120 (GRCh37)
Canonical SPDI:: NC_000024.10:5099078:T:C
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099079T>C, NC_000024.9:g.4967120T>C, NG_011652.1:g.103854T>C, NM_032972.3:c.1501T>C, NM_032972.2:c.1501T>C, NM_032971.3:c.1468T>C, NM_032971.2:c.1468T>C, NM_032973.2:c.1501T>C, NM_001278619.2:c.1468T>C, NM_001278619.1:c.1468T>C, NM_001395587.1:c.1225T>C, XM_017030079.2:c.1468T>C, XM_017030079.1:c.1468T>C, XM_017030080.2:c.1468T>C, XM_017030080.1:c.1468T>C, XM_017030081.2:c.1468T>C, XM_017030081.1:c.1468T>C, NP_116754.1:p.Ser501Pro, NP_116753.1:p.Ser490Pro, NP_116755.1:p.Ser501Pro, NP_001265548.1:p.Ser490Pro, NP_001382516.1:p.Ser409Pro, XP_016885568.1:p.Ser490Pro, XP_016885569.1:p.Ser490Pro, XP_016885570.1:p.Ser490Pro

Select item 14705296244.

rs1470529624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:5100383 (GRCh38)
Y:4968424 (GRCh37)
Canonical SPDI:: NC_000024.10:5100382:C:T
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000024.10:g.5100383C>T, NC_000024.9:g.4968424C>T, NG_011652.1:g.105158C>T, NM_032972.3:c.2805C>T, NM_032972.2:c.2805C>T, NM_032971.3:c.2772C>T, NM_032971.2:c.2772C>T, NM_032973.2:c.2805C>T, NM_001278619.2:c.2772C>T, NM_001278619.1:c.2772C>T, NM_001395587.1:c.2529C>T, XM_017030079.2:c.2772C>T, XM_017030079.1:c.2772C>T, XM_017030080.2:c.2772C>T, XM_017030080.1:c.2772C>T, XM_017030081.2:c.2772C>T, XM_017030081.1:c.2772C>T

Select item 14671645345.

rs1467164534 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: Y:5099625 (GRCh38)
Y:4967667 (GRCh37)
Canonical SPDI:: NC_000024.10:5099625:T:TT
Gene:: PCDH11Y (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099626dup, NC_000024.9:g.4967667dup, NG_011652.1:g.104401dup, NM_032972.3:c.2048dup, NM_032972.2:c.2048dup, NM_032971.3:c.2015dup, NM_032971.2:c.2015dup, NM_032973.2:c.2048dup, NM_001278619.2:c.2015dup, NM_001278619.1:c.2015dup, NM_001395587.1:c.1772dup, XM_017030079.2:c.2015dup, XM_017030079.1:c.2015dup, XM_017030080.2:c.2015dup, XM_017030080.1:c.2015dup, XM_017030081.2:c.2015dup, XM_017030081.1:c.2015dup, NP_116754.1:p.Ser684fs, NP_116753.1:p.Ser673fs, NP_116755.1:p.Ser684fs, NP_001265548.1:p.Ser673fs, NP_001382516.1:p.Ser592fs, XP_016885568.1:p.Ser673fs, XP_016885569.1:p.Ser673fs, XP_016885570.1:p.Ser673fs

Select item 14656146846.

rs1465614684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:5057066 (GRCh38)
Y:4925107 (GRCh37)
Canonical SPDI:: NC_000024.10:5057065:G:A
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00013/9 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5057066G>A, NC_000024.9:g.4925107G>A, NG_011652.1:g.61841G>A, NM_032972.3:c.243G>A, NM_032972.2:c.243G>A, NM_032971.3:c.210G>A, NM_032971.2:c.210G>A, NM_032973.2:c.243G>A, NM_001278619.2:c.210G>A, NM_001278619.1:c.210G>A, NM_001395587.1:c.-34G>A, XM_017030079.2:c.210G>A, XM_017030079.1:c.210G>A, XM_017030080.2:c.210G>A, XM_017030080.1:c.210G>A, XM_017030081.2:c.210G>A, XM_017030081.1:c.210G>A

Select item 14604023277.

rs1460402327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:5099817 (GRCh38)
Y:4967858 (GRCh37)
Canonical SPDI:: NC_000024.10:5099816:A:T
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099817A>T, NC_000024.9:g.4967858A>T, NG_011652.1:g.104592A>T, NM_032972.3:c.2239A>T, NM_032972.2:c.2239A>T, NM_032971.3:c.2206A>T, NM_032971.2:c.2206A>T, NM_032973.2:c.2239A>T, NM_001278619.2:c.2206A>T, NM_001278619.1:c.2206A>T, NM_001395587.1:c.1963A>T, XM_017030079.2:c.2206A>T, XM_017030079.1:c.2206A>T, XM_017030080.2:c.2206A>T, XM_017030080.1:c.2206A>T, XM_017030081.2:c.2206A>T, XM_017030081.1:c.2206A>T, NP_116754.1:p.Ile747Phe, NP_116753.1:p.Ile736Phe, NP_116755.1:p.Ile747Phe, NP_001265548.1:p.Ile736Phe, NP_001382516.1:p.Ile655Phe, XP_016885568.1:p.Ile736Phe, XP_016885569.1:p.Ile736Phe, XP_016885570.1:p.Ile736Phe

Select item 14582091668.

rs1458209166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATCAC>- [Show Flanks]
Chromosome:: Y:5098597 (GRCh38)
Y:4966638 (GRCh37)
Canonical SPDI:: NC_000024.10:5098594:ACTTATCAC:AC
Gene:: PCDH11Y (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.5098597_5098603del, NC_000024.9:g.4966638_4966644del, NG_011652.1:g.103372_103378del, NM_032972.3:c.1019_1025del, NM_032972.2:c.1019_1025del, NM_032971.3:c.986_992del, NM_032971.2:c.986_992del, NM_032973.2:c.1019_1025del, NM_001278619.2:c.986_992del, NM_001278619.1:c.986_992del, NM_001395587.1:c.743_749del, XM_017030079.2:c.986_992del, XM_017030079.1:c.986_992del, XM_017030080.2:c.986_992del, XM_017030080.1:c.986_992del, XM_017030081.2:c.986_992del, XM_017030081.1:c.986_992del, NP_116754.1:p.Leu340fs, NP_116753.1:p.Leu329fs, NP_116755.1:p.Leu340fs, NP_001265548.1:p.Leu329fs, NP_001382516.1:p.Leu248fs, XP_016885568.1:p.Leu329fs, XP_016885569.1:p.Leu329fs, XP_016885570.1:p.Leu329fs

Select item 14526685999.

rs1452668599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:5099363 (GRCh38)
Y:4967404 (GRCh37)
Canonical SPDI:: NC_000024.10:5099362:G:A
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099363G>A, NC_000024.9:g.4967404G>A, NG_011652.1:g.104138G>A, NM_032972.3:c.1785G>A, NM_032972.2:c.1785G>A, NM_032971.3:c.1752G>A, NM_032971.2:c.1752G>A, NM_032973.2:c.1785G>A, NM_001278619.2:c.1752G>A, NM_001278619.1:c.1752G>A, NM_001395587.1:c.1509G>A, XM_017030079.2:c.1752G>A, XM_017030079.1:c.1752G>A, XM_017030080.2:c.1752G>A, XM_017030080.1:c.1752G>A, XM_017030081.2:c.1752G>A, XM_017030081.1:c.1752G>A

Select item 145203923010.

rs1452039230 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: Y:5099339 (GRCh38)
Y:4967380 (GRCh37)
Canonical SPDI:: NC_000024.10:5099338:A:
Gene:: PCDH11Y (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099339del, NC_000024.9:g.4967380del, NG_011652.1:g.104114del, NM_032972.3:c.1761del, NM_032972.2:c.1761del, NM_032971.3:c.1728del, NM_032971.2:c.1728del, NM_032973.2:c.1761del, NM_001278619.2:c.1728del, NM_001278619.1:c.1728del, NM_001395587.1:c.1485del, XM_017030079.2:c.1728del, XM_017030079.1:c.1728del, XM_017030080.2:c.1728del, XM_017030080.1:c.1728del, XM_017030081.2:c.1728del, XM_017030081.1:c.1728del, NP_116754.1:p.Val588fs, NP_116753.1:p.Val577fs, NP_116755.1:p.Val588fs, NP_001265548.1:p.Val577fs, NP_001382516.1:p.Val496fs, XP_016885568.1:p.Val577fs, XP_016885569.1:p.Val577fs, XP_016885570.1:p.Val577fs

Select item 144679610611.

rs1446796106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:5099085 (GRCh38)
Y:4967126 (GRCh37)
Canonical SPDI:: NC_000024.10:5099084:G:A
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.00004/3 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5099085G>A, NC_000024.9:g.4967126G>A, NG_011652.1:g.103860G>A, NM_032972.3:c.1507G>A, NM_032972.2:c.1507G>A, NM_032971.3:c.1474G>A, NM_032971.2:c.1474G>A, NM_032973.2:c.1507G>A, NM_001278619.2:c.1474G>A, NM_001278619.1:c.1474G>A, NM_001395587.1:c.1231G>A, XM_017030079.2:c.1474G>A, XM_017030079.1:c.1474G>A, XM_017030080.2:c.1474G>A, XM_017030080.1:c.1474G>A, XM_017030081.2:c.1474G>A, XM_017030081.1:c.1474G>A, NP_116754.1:p.Val503Ile, NP_116753.1:p.Val492Ile, NP_116755.1:p.Val503Ile, NP_001265548.1:p.Val492Ile, NP_001382516.1:p.Val411Ile, XP_016885568.1:p.Val492Ile, XP_016885569.1:p.Val492Ile, XP_016885570.1:p.Val492Ile

Select item 144421400012.

rs1444214000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:5098872 (GRCh38)
Y:4966913 (GRCh37)
Canonical SPDI:: NC_000024.10:5098871:A:G
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5098872A>G, NC_000024.9:g.4966913A>G, NG_011652.1:g.103647A>G, NM_032972.3:c.1294A>G, NM_032972.2:c.1294A>G, NM_032971.3:c.1261A>G, NM_032971.2:c.1261A>G, NM_032973.2:c.1294A>G, NM_001278619.2:c.1261A>G, NM_001278619.1:c.1261A>G, NM_001395587.1:c.1018A>G, XM_017030079.2:c.1261A>G, XM_017030079.1:c.1261A>G, XM_017030080.2:c.1261A>G, XM_017030080.1:c.1261A>G, XM_017030081.2:c.1261A>G, XM_017030081.1:c.1261A>G, NP_116754.1:p.Thr432Ala, NP_116753.1:p.Thr421Ala, NP_116755.1:p.Thr432Ala, NP_001265548.1:p.Thr421Ala, NP_001382516.1:p.Thr340Ala, XP_016885568.1:p.Thr421Ala, XP_016885569.1:p.Thr421Ala, XP_016885570.1:p.Thr421Ala

Select item 143939306413.

rs1439393064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: Y:5057379 (GRCh38)
Y:4925420 (GRCh37)
Canonical SPDI:: NC_000024.10:5057378:A:C
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5057379A>C, NC_000024.9:g.4925420A>C, NG_011652.1:g.62154A>C, NM_032972.3:c.556A>C, NM_032972.2:c.556A>C, NM_032971.3:c.523A>C, NM_032971.2:c.523A>C, NM_032973.2:c.556A>C, NM_001278619.2:c.523A>C, NM_001278619.1:c.523A>C, NM_001395587.1:c.280A>C, XM_017030079.2:c.523A>C, XM_017030079.1:c.523A>C, XM_017030080.2:c.523A>C, XM_017030080.1:c.523A>C, XM_017030081.2:c.523A>C, XM_017030081.1:c.523A>C, NP_116754.1:p.Ile186Leu, NP_116753.1:p.Ile175Leu, NP_116755.1:p.Ile186Leu, NP_001265548.1:p.Ile175Leu, NP_001382516.1:p.Ile94Leu, XP_016885568.1:p.Ile175Leu, XP_016885569.1:p.Ile175Leu, XP_016885570.1:p.Ile175Leu

Select item 143847890714.

rs1438478907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:5100586 (GRCh38)
Y:4968627 (GRCh37)
Canonical SPDI:: NC_000024.10:5100585:C:T
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5100586C>T, NC_000024.9:g.4968627C>T, NG_011652.1:g.105361C>T, NM_032972.3:c.3008C>T, NM_032972.2:c.3008C>T, NM_032971.3:c.2975C>T, NM_032971.2:c.2975C>T, NM_032973.2:c.3008C>T, NM_001278619.2:c.2975C>T, NM_001278619.1:c.2975C>T, NM_001395587.1:c.2732C>T, XM_017030079.2:c.2975C>T, XM_017030079.1:c.2975C>T, XM_017030080.2:c.2975C>T, XM_017030080.1:c.2975C>T, XM_017030081.2:c.2975C>T, XM_017030081.1:c.2975C>T, NP_116754.1:p.Thr1003Ile, NP_116753.1:p.Thr992Ile, NP_116755.1:p.Thr1003Ile, NP_001265548.1:p.Thr992Ile, NP_001382516.1:p.Thr911Ile, XP_016885568.1:p.Thr992Ile, XP_016885569.1:p.Thr992Ile, XP_016885570.1:p.Thr992Ile

Select item 143174323215.

rs1431743232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:5100089 (GRCh38)
Y:4968130 (GRCh37)
Canonical SPDI:: NC_000024.10:5100088:A:G
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5100089A>G, NC_000024.9:g.4968130A>G, NG_011652.1:g.104864A>G, NM_032972.3:c.2511A>G, NM_032972.2:c.2511A>G, NM_032971.3:c.2478A>G, NM_032971.2:c.2478A>G, NM_032973.2:c.2511A>G, NM_001278619.2:c.2478A>G, NM_001278619.1:c.2478A>G, NM_001395587.1:c.2235A>G, XM_017030079.2:c.2478A>G, XM_017030079.1:c.2478A>G, XM_017030080.2:c.2478A>G, XM_017030080.1:c.2478A>G, XM_017030081.2:c.2478A>G, XM_017030081.1:c.2478A>G

Select item 142779475516.

rs1427794755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:5098992 (GRCh38)
Y:4967033 (GRCh37)
Canonical SPDI:: NC_000024.10:5098991:G:C
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5098992G>C, NC_000024.9:g.4967033G>C, NG_011652.1:g.103767G>C, NM_032972.3:c.1414G>C, NM_032972.2:c.1414G>C, NM_032971.3:c.1381G>C, NM_032971.2:c.1381G>C, NM_032973.2:c.1414G>C, NM_001278619.2:c.1381G>C, NM_001278619.1:c.1381G>C, NM_001395587.1:c.1138G>C, XM_017030079.2:c.1381G>C, XM_017030079.1:c.1381G>C, XM_017030080.2:c.1381G>C, XM_017030080.1:c.1381G>C, XM_017030081.2:c.1381G>C, XM_017030081.1:c.1381G>C, NP_116754.1:p.Asp472His, NP_116753.1:p.Asp461His, NP_116755.1:p.Asp472His, NP_001265548.1:p.Asp461His, NP_001382516.1:p.Asp380His, XP_016885568.1:p.Asp461His, XP_016885569.1:p.Asp461His, XP_016885570.1:p.Asp461His

Select item 142270613817.

rs1422706138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:5056999 (GRCh38)
Y:4925040 (GRCh37)
Canonical SPDI:: NC_000024.10:5056998:A:G
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5056999A>G, NC_000024.9:g.4925040A>G, NG_011652.1:g.61774A>G, NM_032972.3:c.176A>G, NM_032972.2:c.176A>G, NM_032971.3:c.143A>G, NM_032971.2:c.143A>G, NM_032973.2:c.176A>G, NM_001278619.2:c.143A>G, NM_001278619.1:c.143A>G, NM_001395587.1:c.-101A>G, XM_017030079.2:c.143A>G, XM_017030079.1:c.143A>G, XM_017030080.2:c.143A>G, XM_017030080.1:c.143A>G, XM_017030081.2:c.143A>G, XM_017030081.1:c.143A>G, NP_116754.1:p.Asn59Ser, NP_116753.1:p.Asn48Ser, NP_116755.1:p.Asn59Ser, NP_001265548.1:p.Asn48Ser, XP_016885568.1:p.Asn48Ser, XP_016885569.1:p.Asn48Ser, XP_016885570.1:p.Asn48Ser

Select item 142076722818.

rs1420767228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: Y:5100683 (GRCh38)
Y:4968724 (GRCh37)
Canonical SPDI:: NC_000024.10:5100682:A:C
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5100683A>C, NC_000024.9:g.4968724A>C, NG_011652.1:g.105458A>C, NM_032972.3:c.3105A>C, NM_032972.2:c.3105A>C, NM_032971.3:c.3072A>C, NM_032971.2:c.3072A>C, NM_032973.2:c.3105A>C, NM_001278619.2:c.3072A>C, NM_001278619.1:c.3072A>C, NM_001395587.1:c.2829A>C, XM_017030079.2:c.3072A>C, XM_017030079.1:c.3072A>C, XM_017030080.2:c.3072A>C, XM_017030080.1:c.3072A>C, XM_017030081.2:c.3072A>C, XM_017030081.1:c.3072A>C

Select item 141763566119.

rs1417635661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:5100645 (GRCh38)
Y:4968686 (GRCh37)
Canonical SPDI:: NC_000024.10:5100644:G:A
Gene:: PCDH11Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5100645G>A, NC_000024.9:g.4968686G>A, NG_011652.1:g.105420G>A, NM_032972.3:c.3067G>A, NM_032972.2:c.3067G>A, NM_032971.3:c.3034G>A, NM_032971.2:c.3034G>A, NM_032973.2:c.3067G>A, NM_001278619.2:c.3034G>A, NM_001278619.1:c.3034G>A, NM_001395587.1:c.2791G>A, XM_017030079.2:c.3034G>A, XM_017030079.1:c.3034G>A, XM_017030080.2:c.3034G>A, XM_017030080.1:c.3034G>A, XM_017030081.2:c.3034G>A, XM_017030081.1:c.3034G>A, NP_116754.1:p.Val1023Ile, NP_116753.1:p.Val1012Ile, NP_116755.1:p.Val1023Ile, NP_001265548.1:p.Val1012Ile, NP_001382516.1:p.Val931Ile, XP_016885568.1:p.Val1012Ile, XP_016885569.1:p.Val1012Ile, XP_016885570.1:p.Val1012Ile

Select item 141628454820.

rs1416284548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:5100701 (GRCh38)
Y:4968742 (GRCh37)
Canonical SPDI:: NC_000024.10:5100700:C:A
Gene:: PCDH11Y (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.5100701C>A, NC_000024.9:g.4968742C>A, NG_011652.1:g.105476C>A, NM_032972.3:c.3123C>A, NM_032972.2:c.3123C>A, NM_032971.3:c.3090C>A, NM_032971.2:c.3090C>A, NM_032973.2:c.3123C>A, NM_001278619.2:c.3090C>A, NM_001278619.1:c.3090C>A, NM_001395587.1:c.2847C>A, XM_017030079.2:c.3090C>A, XM_017030079.1:c.3090C>A, XM_017030080.2:c.3090C>A, XM_017030080.1:c.3090C>A, XM_017030081.2:c.3090C>A, XM_017030081.1:c.3090C>A

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