Canonical Allele Identifier: CA338232585

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1268137822
• gnomAD v2: 1-17312847-G-T
• gnomAD v4: 1-16986352-G-T
• MyVariant Identifiers: chr1:g.17312847G>T (hg19) ; chr1:g.16986352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986352G>T , CM000663.2:g.16986352G>T	GRCh38
NC_000001.10:g.17312847G>T , CM000663.1:g.17312847G>T	GRCh37
NC_000001.9:g.17185434G>T	NCBI36
NG_009054.1:g.30577C>A
NG_029688.1:g.235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3412C>A MANE Select	ENSP00000327214.8:p.Leu1138Ile
ENST00000326735.12:c.3412C>A	ENSP00000327214.8:p.Leu1138Ile
ENST00000341676.9:c.3110C>A	ENSP00000341115.5:p.Ala1037Asp
ENST00000452699.5:c.3397C>A	ENSP00000413307.1:p.Leu1133Ile
ENST00000466561.1:n.1458C>A
ENST00000502418.1:c.830C>A	ENSP00000423065.1:p.Ala277Asp
NM_001141973.2:c.3397C>A	NP_001135445.1:p.Leu1133Ile
NM_001141974.2:c.3110C>A	NP_001135446.1:p.Ala1037Asp
NM_022089.3:c.3412C>A	NP_071372.1:p.Leu1138Ile
XM_005245809.1:c.3242C>A	XP_005245866.1:p.Ala1081Asp
XM_005245810.1:c.3239C>A	XP_005245867.1:p.Ala1080Asp
XM_005245811.1:c.3227C>A	XP_005245868.1:p.Ala1076Asp
XM_005245812.1:c.3215C>A	XP_005245869.1:p.Ala1072Asp
XM_005245813.1:c.3182C>A	XP_005245870.1:p.Ala1061Asp
XM_005245815.1:c.3125C>A	XP_005245872.1:p.Ala1042Asp
XM_006710512.1:c.3224C>A	XP_006710575.1:p.Ala1075Asp
XM_006710513.1:c.3200C>A	XP_006710576.1:p.Ala1067Asp
XM_011541128.1:c.3227C>A	XP_011539430.1:p.Ala1076Asp
XM_011541129.1:c.3035C>A	XP_011539431.1:p.Ala1012Asp
XM_017000844.1:c.3397C>A	XP_016856333.1:p.Leu1133Ile
XM_017000845.1:c.3394C>A	XP_016856334.1:p.Leu1132Ile
XM_017000846.1:c.3370C>A	XP_016856335.1:p.Leu1124Ile
XM_017000847.1:c.3367C>A	XP_016856336.1:p.Leu1123Ile
XM_017000848.1:c.3295C>A	XP_016856337.1:p.Leu1099Ile
XM_017000849.1:c.3280C>A	XP_016856338.1:p.Leu1094Ile
XM_017000850.1:c.3205C>A	XP_016856339.1:p.Leu1069Ile
NM_022089.4:c.3412C>A MANE Select	NP_071372.1:p.Leu1138Ile
NM_001141973.3:c.3397C>A	NP_001135445.1:p.Leu1133Ile
NM_001141974.3:c.3110C>A	NP_001135446.1:p.Ala1037Asp