Canonical Allele Identifier: CA338232282

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986284-C-T
• MyVariant Identifiers: chr1:g.17312779C>T (hg19) ; chr1:g.16986284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986284C>T , CM000663.2:g.16986284C>T	GRCh38
NC_000001.10:g.17312779C>T , CM000663.1:g.17312779C>T	GRCh37
NC_000001.9:g.17185366C>T	NCBI36
NG_009054.1:g.30645G>A
NG_029688.1:g.303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3480G>A MANE Select	ENSP00000327214.8:p.Lys1160=
ENST00000326735.12:c.3480G>A	ENSP00000327214.8:p.Lys1160=
ENST00000341676.9:c.3178G>A	ENSP00000341115.5:p.Ala1060Thr
ENST00000452699.5:c.3465G>A	ENSP00000413307.1:p.Lys1155=
ENST00000466561.1:n.1526G>A
ENST00000502418.1:c.898G>A	ENSP00000423065.1:p.Ala300Thr
NM_001141973.2:c.3465G>A	NP_001135445.1:p.Lys1155=
NM_001141974.2:c.3178G>A	NP_001135446.1:p.Ala1060Thr
NM_022089.3:c.3480G>A	NP_071372.1:p.Lys1160=
XM_005245809.1:c.3310G>A	XP_005245866.1:p.Ala1104Thr
XM_005245810.1:c.3307G>A	XP_005245867.1:p.Ala1103Thr
XM_005245811.1:c.3295G>A	XP_005245868.1:p.Ala1099Thr
XM_005245812.1:c.3283G>A	XP_005245869.1:p.Ala1095Thr
XM_005245813.1:c.3250G>A	XP_005245870.1:p.Ala1084Thr
XM_005245815.1:c.3193G>A	XP_005245872.1:p.Ala1065Thr
XM_006710512.1:c.3292G>A	XP_006710575.1:p.Ala1098Thr
XM_006710513.1:c.3268G>A	XP_006710576.1:p.Ala1090Thr
XM_011541128.1:c.3295G>A	XP_011539430.1:p.Ala1099Thr
XM_011541129.1:c.3103G>A	XP_011539431.1:p.Ala1035Thr
XM_017000844.1:c.3465G>A	XP_016856333.1:p.Lys1155=
XM_017000845.1:c.3462G>A	XP_016856334.1:p.Lys1154=
XM_017000846.1:c.3438G>A	XP_016856335.1:p.Lys1146=
XM_017000847.1:c.3435G>A	XP_016856336.1:p.Lys1145=
XM_017000848.1:c.3363G>A	XP_016856337.1:p.Lys1121=
XM_017000849.1:c.3348G>A	XP_016856338.1:p.Lys1116=
XM_017000850.1:c.3273G>A	XP_016856339.1:p.Lys1091=
NM_022089.4:c.3480G>A MANE Select	NP_071372.1:p.Lys1160=
NM_001141973.3:c.3465G>A	NP_001135445.1:p.Lys1155=
NM_001141974.3:c.3178G>A	NP_001135446.1:p.Ala1060Thr