Canonical Allele Identifier: CA338233184

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1343677602
• gnomAD v2: 1-17313104-G-T
• gnomAD v4: 1-16986609-G-T
• MyVariant Identifiers: chr1:g.17313104G>T (hg19) ; chr1:g.16986609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986609G>T , CM000663.2:g.16986609G>T	GRCh38
NC_000001.10:g.17313104G>T , CM000663.1:g.17313104G>T	GRCh37
NC_000001.9:g.17185691G>T	NCBI36
NG_009054.1:g.30320C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3259C>A MANE Select	ENSP00000327214.8:p.Leu1087Ile
ENST00000326735.12:c.3259C>A	ENSP00000327214.8:p.Leu1087Ile
ENST00000341676.9:c.3103+196C>A	ENSP00000341115.5:n.3103+196C>A
ENST00000452699.5:c.3244C>A	ENSP00000413307.1:p.Leu1082Ile
ENST00000466561.1:n.1305C>A
ENST00000502418.1:c.823+196C>A	ENSP00000423065.1:n.823+196C>A
NM_001141973.2:c.3244C>A	NP_001135445.1:p.Leu1082Ile
NM_001141974.2:c.3103+196C>A	NP_001135446.1:n.3103+196C>A
NM_022089.3:c.3259C>A	NP_071372.1:p.Leu1087Ile
XM_005245809.1:c.3235+196C>A	XP_005245866.1:n.3235+196C>A
XM_005245810.1:c.3232+196C>A	XP_005245867.1:n.3232+196C>A
XM_005245811.1:c.3220+196C>A	XP_005245868.1:n.3220+196C>A
XM_005245812.1:c.3208+196C>A	XP_005245869.1:n.3208+196C>A
XM_005245813.1:c.3175+196C>A	XP_005245870.1:n.3175+196C>A
XM_005245815.1:c.3118+196C>A	XP_005245872.1:n.3118+196C>A
XM_006710512.1:c.3217+196C>A	XP_006710575.1:n.3217+196C>A
XM_006710513.1:c.3193+196C>A	XP_006710576.1:n.3193+196C>A
XM_011541128.1:c.3220+196C>A	XP_011539430.1:n.3220+196C>A
XM_011541129.1:c.3028+196C>A	XP_011539431.1:n.3028+196C>A
XM_017000844.1:c.3244C>A	XP_016856333.1:p.Leu1082Ile
XM_017000845.1:c.3241C>A	XP_016856334.1:p.Leu1081Ile
XM_017000846.1:c.3217C>A	XP_016856335.1:p.Leu1073Ile
XM_017000847.1:c.3214C>A	XP_016856336.1:p.Leu1072Ile
XM_017000848.1:c.3142C>A	XP_016856337.1:p.Leu1048Ile
XM_017000849.1:c.3127C>A	XP_016856338.1:p.Leu1043Ile
XM_017000850.1:c.3052C>A	XP_016856339.1:p.Leu1018Ile
NM_022089.4:c.3259C>A MANE Select	NP_071372.1:p.Leu1087Ile
NM_001141973.3:c.3244C>A	NP_001135445.1:p.Leu1082Ile
NM_001141974.3:c.3103+196C>A	NP_001135446.1:n.3103+196C>A