Canonical Allele Identifier: CA636485

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1383259
• ClinVar RCV Id: RCV001892463
• dbSNP Id: rs756071133
• ExAC: 1:17312825 C / T
• gnomAD v2: 1-17312825-C-T
• gnomAD v3: 1-16986330-C-T
• gnomAD v4: 1-16986330-C-T
• MyVariant Identifiers: chr1:g.17312825C>T (hg19) ; chr1:g.16986330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986330C>T , CM000663.2:g.16986330C>T	GRCh38
NC_000001.10:g.17312825C>T , CM000663.1:g.17312825C>T	GRCh37
NC_000001.9:g.17185412C>T	NCBI36
NG_009054.1:g.30599G>A
NG_029688.1:g.257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3434G>A MANE Select	ENSP00000327214.8:p.Cys1145Tyr
ENST00000326735.12:c.3434G>A	ENSP00000327214.8:p.Cys1145Tyr
ENST00000341676.9:c.3132G>A	ENSP00000341115.5:p.Leu1044=
ENST00000452699.5:c.3419G>A	ENSP00000413307.1:p.Cys1140Tyr
ENST00000466561.1:n.1480G>A
ENST00000502418.1:c.852G>A	ENSP00000423065.1:p.Leu284=
NM_001141973.2:c.3419G>A	NP_001135445.1:p.Cys1140Tyr
NM_001141974.2:c.3132G>A	NP_001135446.1:p.Leu1044=
NM_022089.3:c.3434G>A	NP_071372.1:p.Cys1145Tyr
XM_005245809.1:c.3264G>A	XP_005245866.1:p.Leu1088=
XM_005245810.1:c.3261G>A	XP_005245867.1:p.Leu1087=
XM_005245811.1:c.3249G>A	XP_005245868.1:p.Leu1083=
XM_005245812.1:c.3237G>A	XP_005245869.1:p.Leu1079=
XM_005245813.1:c.3204G>A	XP_005245870.1:p.Leu1068=
XM_005245815.1:c.3147G>A	XP_005245872.1:p.Leu1049=
XM_006710512.1:c.3246G>A	XP_006710575.1:p.Leu1082=
XM_006710513.1:c.3222G>A	XP_006710576.1:p.Leu1074=
XM_011541128.1:c.3249G>A	XP_011539430.1:p.Leu1083=
XM_011541129.1:c.3057G>A	XP_011539431.1:p.Leu1019=
XM_017000844.1:c.3419G>A	XP_016856333.1:p.Cys1140Tyr
XM_017000845.1:c.3416G>A	XP_016856334.1:p.Cys1139Tyr
XM_017000846.1:c.3392G>A	XP_016856335.1:p.Cys1131Tyr
XM_017000847.1:c.3389G>A	XP_016856336.1:p.Cys1130Tyr
XM_017000848.1:c.3317G>A	XP_016856337.1:p.Cys1106Tyr
XM_017000849.1:c.3302G>A	XP_016856338.1:p.Cys1101Tyr
XM_017000850.1:c.3227G>A	XP_016856339.1:p.Cys1076Tyr
NM_022089.4:c.3434G>A MANE Select	NP_071372.1:p.Cys1145Tyr
NM_001141973.3:c.3419G>A	NP_001135445.1:p.Cys1140Tyr
NM_001141974.3:c.3132G>A	NP_001135446.1:p.Leu1044=