Canonical Allele Identifier: CA338251887

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996015-G-C
• MyVariant Identifiers: chr1:g.17322510G>C (hg19) ; chr1:g.16996015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996015G>C , CM000663.2:g.16996015G>C	GRCh38
NC_000001.10:g.17322510G>C , CM000663.1:g.17322510G>C	GRCh37
NC_000001.9:g.17195097G>C	NCBI36
NG_009054.1:g.20914C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1503C>G MANE Select	ENSP00000327214.8:p.Ile501Met
ENST00000326735.12:c.1503C>G	ENSP00000327214.8:p.Ile501Met
ENST00000341676.9:c.1488C>G	ENSP00000341115.5:p.Ile496Met
ENST00000452699.5:c.1488C>G	ENSP00000413307.1:p.Ile496Met
ENST00000463860.5:n.1111C>G
ENST00000502860.1:n.531C>G
ENST00000503552.1:c.180C>G	ENSP00000421126.1:p.Ile60Met
ENST00000617114.4:c.531C>G	ENSP00000478781.1:p.Ile177Met
NM_001141973.2:c.1488C>G	NP_001135445.1:p.Ile496Met
NM_001141974.2:c.1488C>G	NP_001135446.1:p.Ile496Met
NM_022089.3:c.1503C>G	NP_071372.1:p.Ile501Met
XM_005245809.1:c.1503C>G	XP_005245866.1:p.Ile501Met
XM_005245810.1:c.1500C>G	XP_005245867.1:p.Ile500Met
XM_005245811.1:c.1488C>G	XP_005245868.1:p.Ile496Met
XM_005245812.1:c.1476C>G	XP_005245869.1:p.Ile492Met
XM_005245813.1:c.1503C>G	XP_005245870.1:p.Ile501Met
XM_005245815.1:c.1503C>G	XP_005245872.1:p.Ile501Met
XM_006710512.1:c.1485C>G	XP_006710575.1:p.Ile495Met
XM_006710513.1:c.1461C>G	XP_006710576.1:p.Ile487Met
XM_011541128.1:c.1503C>G	XP_011539430.1:p.Ile501Met
XM_011541129.1:c.1503C>G	XP_011539431.1:p.Ile501Met
XM_017000844.1:c.1503C>G	XP_016856333.1:p.Ile501Met
XM_017000845.1:c.1485C>G	XP_016856334.1:p.Ile495Met
XM_017000846.1:c.1461C>G	XP_016856335.1:p.Ile487Met
XM_017000847.1:c.1473C>G	XP_016856336.1:p.Ile491Met
XM_017000848.1:c.1503C>G	XP_016856337.1:p.Ile501Met
XM_017000849.1:c.1488C>G	XP_016856338.1:p.Ile496Met
XM_017000850.1:c.1503C>G	XP_016856339.1:p.Ile501Met
NM_022089.4:c.1503C>G MANE Select	NP_071372.1:p.Ile501Met
NM_001141973.3:c.1488C>G	NP_001135445.1:p.Ile496Met
NM_001141974.3:c.1488C>G	NP_001135446.1:p.Ile496Met