Canonical Allele Identifier: CA338232489

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312826A>T (hg19) ; chr1:g.16986331A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986331A>T , CM000663.2:g.16986331A>T	GRCh38
NC_000001.10:g.17312826A>T , CM000663.1:g.17312826A>T	GRCh37
NC_000001.9:g.17185413A>T	NCBI36
NG_009054.1:g.30598T>A
NG_029688.1:g.256T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3433T>A MANE Select	ENSP00000327214.8:p.Cys1145Ser
ENST00000326735.12:c.3433T>A	ENSP00000327214.8:p.Cys1145Ser
ENST00000341676.9:c.3131T>A	ENSP00000341115.5:p.Leu1044Gln
ENST00000452699.5:c.3418T>A	ENSP00000413307.1:p.Cys1140Ser
ENST00000466561.1:n.1479T>A
ENST00000502418.1:c.851T>A	ENSP00000423065.1:p.Leu284Gln
NM_001141973.2:c.3418T>A	NP_001135445.1:p.Cys1140Ser
NM_001141974.2:c.3131T>A	NP_001135446.1:p.Leu1044Gln
NM_022089.3:c.3433T>A	NP_071372.1:p.Cys1145Ser
XM_005245809.1:c.3263T>A	XP_005245866.1:p.Leu1088Gln
XM_005245810.1:c.3260T>A	XP_005245867.1:p.Leu1087Gln
XM_005245811.1:c.3248T>A	XP_005245868.1:p.Leu1083Gln
XM_005245812.1:c.3236T>A	XP_005245869.1:p.Leu1079Gln
XM_005245813.1:c.3203T>A	XP_005245870.1:p.Leu1068Gln
XM_005245815.1:c.3146T>A	XP_005245872.1:p.Leu1049Gln
XM_006710512.1:c.3245T>A	XP_006710575.1:p.Leu1082Gln
XM_006710513.1:c.3221T>A	XP_006710576.1:p.Leu1074Gln
XM_011541128.1:c.3248T>A	XP_011539430.1:p.Leu1083Gln
XM_011541129.1:c.3056T>A	XP_011539431.1:p.Leu1019Gln
XM_017000844.1:c.3418T>A	XP_016856333.1:p.Cys1140Ser
XM_017000845.1:c.3415T>A	XP_016856334.1:p.Cys1139Ser
XM_017000846.1:c.3391T>A	XP_016856335.1:p.Cys1131Ser
XM_017000847.1:c.3388T>A	XP_016856336.1:p.Cys1130Ser
XM_017000848.1:c.3316T>A	XP_016856337.1:p.Cys1106Ser
XM_017000849.1:c.3301T>A	XP_016856338.1:p.Cys1101Ser
XM_017000850.1:c.3226T>A	XP_016856339.1:p.Cys1076Ser
NM_022089.4:c.3433T>A MANE Select	NP_071372.1:p.Cys1145Ser
NM_001141973.3:c.3418T>A	NP_001135445.1:p.Cys1140Ser
NM_001141974.3:c.3131T>A	NP_001135446.1:p.Leu1044Gln