Canonical Allele Identifier: CA338232312

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986290-G-T
• MyVariant Identifiers: chr1:g.17312785G>T (hg19) ; chr1:g.16986290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986290G>T , CM000663.2:g.16986290G>T	GRCh38
NC_000001.10:g.17312785G>T , CM000663.1:g.17312785G>T	GRCh37
NC_000001.9:g.17185372G>T	NCBI36
NG_009054.1:g.30639C>A
NG_029688.1:g.297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3474C>A MANE Select	ENSP00000327214.8:p.Arg1158=
ENST00000326735.12:c.3474C>A	ENSP00000327214.8:p.Arg1158=
ENST00000341676.9:c.3172C>A	ENSP00000341115.5:p.Leu1058Ile
ENST00000452699.5:c.3459C>A	ENSP00000413307.1:p.Arg1153=
ENST00000466561.1:n.1520C>A
ENST00000502418.1:c.892C>A	ENSP00000423065.1:p.Leu298Ile
NM_001141973.2:c.3459C>A	NP_001135445.1:p.Arg1153=
NM_001141974.2:c.3172C>A	NP_001135446.1:p.Leu1058Ile
NM_022089.3:c.3474C>A	NP_071372.1:p.Arg1158=
XM_005245809.1:c.3304C>A	XP_005245866.1:p.Leu1102Ile
XM_005245810.1:c.3301C>A	XP_005245867.1:p.Leu1101Ile
XM_005245811.1:c.3289C>A	XP_005245868.1:p.Leu1097Ile
XM_005245812.1:c.3277C>A	XP_005245869.1:p.Leu1093Ile
XM_005245813.1:c.3244C>A	XP_005245870.1:p.Leu1082Ile
XM_005245815.1:c.3187C>A	XP_005245872.1:p.Leu1063Ile
XM_006710512.1:c.3286C>A	XP_006710575.1:p.Leu1096Ile
XM_006710513.1:c.3262C>A	XP_006710576.1:p.Leu1088Ile
XM_011541128.1:c.3289C>A	XP_011539430.1:p.Leu1097Ile
XM_011541129.1:c.3097C>A	XP_011539431.1:p.Leu1033Ile
XM_017000844.1:c.3459C>A	XP_016856333.1:p.Arg1153=
XM_017000845.1:c.3456C>A	XP_016856334.1:p.Arg1152=
XM_017000846.1:c.3432C>A	XP_016856335.1:p.Arg1144=
XM_017000847.1:c.3429C>A	XP_016856336.1:p.Arg1143=
XM_017000848.1:c.3357C>A	XP_016856337.1:p.Arg1119=
XM_017000849.1:c.3342C>A	XP_016856338.1:p.Arg1114=
XM_017000850.1:c.3267C>A	XP_016856339.1:p.Arg1089=
NM_022089.4:c.3474C>A MANE Select	NP_071372.1:p.Arg1158=
NM_001141973.3:c.3459C>A	NP_001135445.1:p.Arg1153=
NM_001141974.3:c.3172C>A	NP_001135446.1:p.Leu1058Ile