Canonical Allele Identifier: CA338232076

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986249-G-T
• MyVariant Identifiers: chr1:g.17312744G>T (hg19) ; chr1:g.16986249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986249G>T , CM000663.2:g.16986249G>T	GRCh38
NC_000001.10:g.17312744G>T , CM000663.1:g.17312744G>T	GRCh37
NC_000001.9:g.17185331G>T	NCBI36
NG_009054.1:g.30680C>A
NG_029688.1:g.338C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3515C>A MANE Select	ENSP00000327214.8:p.Pro1172Gln
ENST00000326735.12:c.3515C>A	ENSP00000327214.8:p.Pro1172Gln
ENST00000341676.9:c.3213C>A	ENSP00000341115.5:p.Ala1071=
ENST00000452699.5:c.3500C>A	ENSP00000413307.1:p.Pro1167Gln
ENST00000466561.1:n.1561C>A
ENST00000502418.1:c.933C>A	ENSP00000423065.1:p.Ala311=
NM_001141973.2:c.3500C>A	NP_001135445.1:p.Pro1167Gln
NM_001141974.2:c.3213C>A	NP_001135446.1:p.Ala1071=
NM_022089.3:c.3515C>A	NP_071372.1:p.Pro1172Gln
XM_005245809.1:c.3345C>A	XP_005245866.1:p.Ala1115=
XM_005245810.1:c.3342C>A	XP_005245867.1:p.Ala1114=
XM_005245811.1:c.3330C>A	XP_005245868.1:p.Ala1110=
XM_005245812.1:c.3318C>A	XP_005245869.1:p.Ala1106=
XM_005245813.1:c.3285C>A	XP_005245870.1:p.Ala1095=
XM_005245815.1:c.3228C>A	XP_005245872.1:p.Ala1076=
XM_006710512.1:c.3327C>A	XP_006710575.1:p.Ala1109=
XM_006710513.1:c.3303C>A	XP_006710576.1:p.Ala1101=
XM_011541128.1:c.3330C>A	XP_011539430.1:p.Ala1110=
XM_011541129.1:c.3138C>A	XP_011539431.1:p.Ala1046=
XM_017000844.1:c.3500C>A	XP_016856333.1:p.Pro1167Gln
XM_017000845.1:c.3497C>A	XP_016856334.1:p.Pro1166Gln
XM_017000846.1:c.3473C>A	XP_016856335.1:p.Pro1158Gln
XM_017000847.1:c.3470C>A	XP_016856336.1:p.Pro1157Gln
XM_017000848.1:c.3398C>A	XP_016856337.1:p.Pro1133Gln
XM_017000849.1:c.3383C>A	XP_016856338.1:p.Pro1128Gln
XM_017000850.1:c.3308C>A	XP_016856339.1:p.Pro1103Gln
NM_022089.4:c.3515C>A MANE Select	NP_071372.1:p.Pro1172Gln
NM_001141973.3:c.3500C>A	NP_001135445.1:p.Pro1167Gln
NM_001141974.3:c.3213C>A	NP_001135446.1:p.Ala1071=