Canonical Allele Identifier: CA338232078

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312745G>A (hg19) ; chr1:g.16986250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986250G>A , CM000663.2:g.16986250G>A	GRCh38
NC_000001.10:g.17312745G>A , CM000663.1:g.17312745G>A	GRCh37
NC_000001.9:g.17185332G>A	NCBI36
NG_009054.1:g.30679C>T
NG_029688.1:g.337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3514C>T MANE Select	ENSP00000327214.8:p.Pro1172Ser
ENST00000326735.12:c.3514C>T	ENSP00000327214.8:p.Pro1172Ser
ENST00000341676.9:c.3212C>T	ENSP00000341115.5:p.Ala1071Val
ENST00000452699.5:c.3499C>T	ENSP00000413307.1:p.Pro1167Ser
ENST00000466561.1:n.1560C>T
ENST00000502418.1:c.932C>T	ENSP00000423065.1:p.Ala311Val
NM_001141973.2:c.3499C>T	NP_001135445.1:p.Pro1167Ser
NM_001141974.2:c.3212C>T	NP_001135446.1:p.Ala1071Val
NM_022089.3:c.3514C>T	NP_071372.1:p.Pro1172Ser
XM_005245809.1:c.3344C>T	XP_005245866.1:p.Ala1115Val
XM_005245810.1:c.3341C>T	XP_005245867.1:p.Ala1114Val
XM_005245811.1:c.3329C>T	XP_005245868.1:p.Ala1110Val
XM_005245812.1:c.3317C>T	XP_005245869.1:p.Ala1106Val
XM_005245813.1:c.3284C>T	XP_005245870.1:p.Ala1095Val
XM_005245815.1:c.3227C>T	XP_005245872.1:p.Ala1076Val
XM_006710512.1:c.3326C>T	XP_006710575.1:p.Ala1109Val
XM_006710513.1:c.3302C>T	XP_006710576.1:p.Ala1101Val
XM_011541128.1:c.3329C>T	XP_011539430.1:p.Ala1110Val
XM_011541129.1:c.3137C>T	XP_011539431.1:p.Ala1046Val
XM_017000844.1:c.3499C>T	XP_016856333.1:p.Pro1167Ser
XM_017000845.1:c.3496C>T	XP_016856334.1:p.Pro1166Ser
XM_017000846.1:c.3472C>T	XP_016856335.1:p.Pro1158Ser
XM_017000847.1:c.3469C>T	XP_016856336.1:p.Pro1157Ser
XM_017000848.1:c.3397C>T	XP_016856337.1:p.Pro1133Ser
XM_017000849.1:c.3382C>T	XP_016856338.1:p.Pro1128Ser
XM_017000850.1:c.3307C>T	XP_016856339.1:p.Pro1103Ser
NM_022089.4:c.3514C>T MANE Select	NP_071372.1:p.Pro1172Ser
NM_001141973.3:c.3499C>T	NP_001135445.1:p.Pro1167Ser
NM_001141974.3:c.3212C>T	NP_001135446.1:p.Ala1071Val