Canonical Allele Identifier: CA338251900

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322512T>A (hg19) ; chr1:g.16996017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996017T>A , CM000663.2:g.16996017T>A	GRCh38
NC_000001.10:g.17322512T>A , CM000663.1:g.17322512T>A	GRCh37
NC_000001.9:g.17195099T>A	NCBI36
NG_009054.1:g.20912A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1501A>T MANE Select	ENSP00000327214.8:p.Ile501Phe
ENST00000326735.12:c.1501A>T	ENSP00000327214.8:p.Ile501Phe
ENST00000341676.9:c.1486A>T	ENSP00000341115.5:p.Ile496Phe
ENST00000452699.5:c.1486A>T	ENSP00000413307.1:p.Ile496Phe
ENST00000463860.5:n.1109A>T
ENST00000502860.1:n.529A>T
ENST00000503552.1:c.178A>T	ENSP00000421126.1:p.Ile60Phe
ENST00000617114.4:c.529A>T	ENSP00000478781.1:p.Ile177Phe
NM_001141973.2:c.1486A>T	NP_001135445.1:p.Ile496Phe
NM_001141974.2:c.1486A>T	NP_001135446.1:p.Ile496Phe
NM_022089.3:c.1501A>T	NP_071372.1:p.Ile501Phe
XM_005245809.1:c.1501A>T	XP_005245866.1:p.Ile501Phe
XM_005245810.1:c.1498A>T	XP_005245867.1:p.Ile500Phe
XM_005245811.1:c.1486A>T	XP_005245868.1:p.Ile496Phe
XM_005245812.1:c.1474A>T	XP_005245869.1:p.Ile492Phe
XM_005245813.1:c.1501A>T	XP_005245870.1:p.Ile501Phe
XM_005245815.1:c.1501A>T	XP_005245872.1:p.Ile501Phe
XM_006710512.1:c.1483A>T	XP_006710575.1:p.Ile495Phe
XM_006710513.1:c.1459A>T	XP_006710576.1:p.Ile487Phe
XM_011541128.1:c.1501A>T	XP_011539430.1:p.Ile501Phe
XM_011541129.1:c.1501A>T	XP_011539431.1:p.Ile501Phe
XM_017000844.1:c.1501A>T	XP_016856333.1:p.Ile501Phe
XM_017000845.1:c.1483A>T	XP_016856334.1:p.Ile495Phe
XM_017000846.1:c.1459A>T	XP_016856335.1:p.Ile487Phe
XM_017000847.1:c.1471A>T	XP_016856336.1:p.Ile491Phe
XM_017000848.1:c.1501A>T	XP_016856337.1:p.Ile501Phe
XM_017000849.1:c.1486A>T	XP_016856338.1:p.Ile496Phe
XM_017000850.1:c.1501A>T	XP_016856339.1:p.Ile501Phe
NM_022089.4:c.1501A>T MANE Select	NP_071372.1:p.Ile501Phe
NM_001141973.3:c.1486A>T	NP_001135445.1:p.Ile496Phe
NM_001141974.3:c.1486A>T	NP_001135446.1:p.Ile496Phe