Canonical Allele Identifier: CA338232176

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312760C>A (hg19) ; chr1:g.16986265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986265C>A , CM000663.2:g.16986265C>A	GRCh38
NC_000001.10:g.17312760C>A , CM000663.1:g.17312760C>A	GRCh37
NC_000001.9:g.17185347C>A	NCBI36
NG_009054.1:g.30664G>T
NG_029688.1:g.322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3499G>T MANE Select	ENSP00000327214.8:p.Ala1167Ser
ENST00000326735.12:c.3499G>T	ENSP00000327214.8:p.Ala1167Ser
ENST00000341676.9:c.3197G>T	ENSP00000341115.5:p.Gly1066Val
ENST00000452699.5:c.3484G>T	ENSP00000413307.1:p.Ala1162Ser
ENST00000466561.1:n.1545G>T
ENST00000502418.1:c.917G>T	ENSP00000423065.1:p.Gly306Val
NM_001141973.2:c.3484G>T	NP_001135445.1:p.Ala1162Ser
NM_001141974.2:c.3197G>T	NP_001135446.1:p.Gly1066Val
NM_022089.3:c.3499G>T	NP_071372.1:p.Ala1167Ser
XM_005245809.1:c.3329G>T	XP_005245866.1:p.Gly1110Val
XM_005245810.1:c.3326G>T	XP_005245867.1:p.Gly1109Val
XM_005245811.1:c.3314G>T	XP_005245868.1:p.Gly1105Val
XM_005245812.1:c.3302G>T	XP_005245869.1:p.Gly1101Val
XM_005245813.1:c.3269G>T	XP_005245870.1:p.Gly1090Val
XM_005245815.1:c.3212G>T	XP_005245872.1:p.Gly1071Val
XM_006710512.1:c.3311G>T	XP_006710575.1:p.Gly1104Val
XM_006710513.1:c.3287G>T	XP_006710576.1:p.Gly1096Val
XM_011541128.1:c.3314G>T	XP_011539430.1:p.Gly1105Val
XM_011541129.1:c.3122G>T	XP_011539431.1:p.Gly1041Val
XM_017000844.1:c.3484G>T	XP_016856333.1:p.Ala1162Ser
XM_017000845.1:c.3481G>T	XP_016856334.1:p.Ala1161Ser
XM_017000846.1:c.3457G>T	XP_016856335.1:p.Ala1153Ser
XM_017000847.1:c.3454G>T	XP_016856336.1:p.Ala1152Ser
XM_017000848.1:c.3382G>T	XP_016856337.1:p.Ala1128Ser
XM_017000849.1:c.3367G>T	XP_016856338.1:p.Ala1123Ser
XM_017000850.1:c.3292G>T	XP_016856339.1:p.Ala1098Ser
NM_022089.4:c.3499G>T MANE Select	NP_071372.1:p.Ala1167Ser
NM_001141973.3:c.3484G>T	NP_001135445.1:p.Ala1162Ser
NM_001141974.3:c.3197G>T	NP_001135446.1:p.Gly1066Val