Canonical Allele Identifier: CA338232613

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312853T>A (hg19) ; chr1:g.16986358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986358T>A , CM000663.2:g.16986358T>A	GRCh38
NC_000001.10:g.17312853T>A , CM000663.1:g.17312853T>A	GRCh37
NC_000001.9:g.17185440T>A	NCBI36
NG_009054.1:g.30571A>T
NG_029688.1:g.229A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3406A>T MANE Select	ENSP00000327214.8:p.Ser1136Cys
ENST00000326735.12:c.3406A>T	ENSP00000327214.8:p.Ser1136Cys
ENST00000341676.9:c.3104A>T	ENSP00000341115.5:p.Glu1035Val
ENST00000452699.5:c.3391A>T	ENSP00000413307.1:p.Ser1131Cys
ENST00000466561.1:n.1452A>T
ENST00000502418.1:c.824A>T	ENSP00000423065.1:p.Glu275Val
NM_001141973.2:c.3391A>T	NP_001135445.1:p.Ser1131Cys
NM_001141974.2:c.3104A>T	NP_001135446.1:p.Glu1035Val
NM_022089.3:c.3406A>T	NP_071372.1:p.Ser1136Cys
XM_005245809.1:c.3236A>T	XP_005245866.1:p.Glu1079Val
XM_005245810.1:c.3233A>T	XP_005245867.1:p.Glu1078Val
XM_005245811.1:c.3221A>T	XP_005245868.1:p.Glu1074Val
XM_005245812.1:c.3209A>T	XP_005245869.1:p.Glu1070Val
XM_005245813.1:c.3176A>T	XP_005245870.1:p.Glu1059Val
XM_005245815.1:c.3119A>T	XP_005245872.1:p.Glu1040Val
XM_006710512.1:c.3218A>T	XP_006710575.1:p.Glu1073Val
XM_006710513.1:c.3194A>T	XP_006710576.1:p.Glu1065Val
XM_011541128.1:c.3221A>T	XP_011539430.1:p.Glu1074Val
XM_011541129.1:c.3029A>T	XP_011539431.1:p.Glu1010Val
XM_017000844.1:c.3391A>T	XP_016856333.1:p.Ser1131Cys
XM_017000845.1:c.3388A>T	XP_016856334.1:p.Ser1130Cys
XM_017000846.1:c.3364A>T	XP_016856335.1:p.Ser1122Cys
XM_017000847.1:c.3361A>T	XP_016856336.1:p.Ser1121Cys
XM_017000848.1:c.3289A>T	XP_016856337.1:p.Ser1097Cys
XM_017000849.1:c.3274A>T	XP_016856338.1:p.Ser1092Cys
XM_017000850.1:c.3199A>T	XP_016856339.1:p.Ser1067Cys
NM_022089.4:c.3406A>T MANE Select	NP_071372.1:p.Ser1136Cys
NM_001141973.3:c.3391A>T	NP_001135445.1:p.Ser1131Cys
NM_001141974.3:c.3104A>T	NP_001135446.1:p.Glu1035Val