Canonical Allele Identifier: CA338232617

Gene: ATP13A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3406A>C MANE Select	ENSP00000327214.8:p.Ser1136Arg
ENST00000326735.12:c.3406A>C	ENSP00000327214.8:p.Ser1136Arg
ENST00000341676.9:c.3104A>C	ENSP00000341115.5:p.Glu1035Ala
ENST00000452699.5:c.3391A>C	ENSP00000413307.1:p.Ser1131Arg
ENST00000466561.1:n.1452A>C
ENST00000502418.1:c.824A>C	ENSP00000423065.1:p.Glu275Ala
NM_001141973.2:c.3391A>C	NP_001135445.1:p.Ser1131Arg
NM_001141974.2:c.3104A>C	NP_001135446.1:p.Glu1035Ala
NM_022089.3:c.3406A>C	NP_071372.1:p.Ser1136Arg
XM_005245809.1:c.3236A>C	XP_005245866.1:p.Glu1079Ala
XM_005245810.1:c.3233A>C	XP_005245867.1:p.Glu1078Ala
XM_005245811.1:c.3221A>C	XP_005245868.1:p.Glu1074Ala
XM_005245812.1:c.3209A>C	XP_005245869.1:p.Glu1070Ala
XM_005245813.1:c.3176A>C	XP_005245870.1:p.Glu1059Ala
XM_005245815.1:c.3119A>C	XP_005245872.1:p.Glu1040Ala
XM_006710512.1:c.3218A>C	XP_006710575.1:p.Glu1073Ala
XM_006710513.1:c.3194A>C	XP_006710576.1:p.Glu1065Ala
XM_011541128.1:c.3221A>C	XP_011539430.1:p.Glu1074Ala
XM_011541129.1:c.3029A>C	XP_011539431.1:p.Glu1010Ala
XM_017000844.1:c.3391A>C	XP_016856333.1:p.Ser1131Arg
XM_017000845.1:c.3388A>C	XP_016856334.1:p.Ser1130Arg
XM_017000846.1:c.3364A>C	XP_016856335.1:p.Ser1122Arg
XM_017000847.1:c.3361A>C	XP_016856336.1:p.Ser1121Arg
XM_017000848.1:c.3289A>C	XP_016856337.1:p.Ser1097Arg
XM_017000849.1:c.3274A>C	XP_016856338.1:p.Ser1092Arg
XM_017000850.1:c.3199A>C	XP_016856339.1:p.Ser1067Arg
NM_022089.4:c.3406A>C MANE Select	NP_071372.1:p.Ser1136Arg
NM_001141973.3:c.3391A>C	NP_001135445.1:p.Ser1131Arg
NM_001141974.3:c.3104A>C	NP_001135446.1:p.Glu1035Ala