Canonical Allele Identifier: CA338251685

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322481C>A (hg19) ; chr1:g.16995986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995986C>A , CM000663.2:g.16995986C>A	GRCh38
NC_000001.10:g.17322481C>A , CM000663.1:g.17322481C>A	GRCh37
NC_000001.9:g.17195068C>A	NCBI36
NG_009054.1:g.20943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1532G>T MANE Select	ENSP00000327214.8:p.Cys511Phe
ENST00000326735.12:c.1532G>T	ENSP00000327214.8:p.Cys511Phe
ENST00000341676.9:c.1517G>T	ENSP00000341115.5:p.Cys506Phe
ENST00000452699.5:c.1517G>T	ENSP00000413307.1:p.Cys506Phe
ENST00000463860.5:n.1140G>T
ENST00000502860.1:n.560G>T
ENST00000503552.1:c.209G>T	ENSP00000421126.1:p.Cys70Phe
ENST00000617114.4:c.560G>T	ENSP00000478781.1:p.Cys187Phe
NM_001141973.2:c.1517G>T	NP_001135445.1:p.Cys506Phe
NM_001141974.2:c.1517G>T	NP_001135446.1:p.Cys506Phe
NM_022089.3:c.1532G>T	NP_071372.1:p.Cys511Phe
XM_005245809.1:c.1532G>T	XP_005245866.1:p.Cys511Phe
XM_005245810.1:c.1529G>T	XP_005245867.1:p.Cys510Phe
XM_005245811.1:c.1517G>T	XP_005245868.1:p.Cys506Phe
XM_005245812.1:c.1505G>T	XP_005245869.1:p.Cys502Phe
XM_005245813.1:c.1532G>T	XP_005245870.1:p.Cys511Phe
XM_005245815.1:c.1532G>T	XP_005245872.1:p.Cys511Phe
XM_006710512.1:c.1514G>T	XP_006710575.1:p.Cys505Phe
XM_006710513.1:c.1490G>T	XP_006710576.1:p.Cys497Phe
XM_011541128.1:c.1527+5G>T	XP_011539430.1:n.1527+5G>T
XM_011541129.1:c.1532G>T	XP_011539431.1:p.Cys511Phe
XM_017000844.1:c.1527+5G>T	XP_016856333.1:n.1527+5G>T
XM_017000845.1:c.1514G>T	XP_016856334.1:p.Cys505Phe
XM_017000846.1:c.1490G>T	XP_016856335.1:p.Cys497Phe
XM_017000847.1:c.1497+5G>T	XP_016856336.1:n.1497+5G>T
XM_017000848.1:c.1532G>T	XP_016856337.1:p.Cys511Phe
XM_017000849.1:c.1517G>T	XP_016856338.1:p.Cys506Phe
XM_017000850.1:c.1532G>T	XP_016856339.1:p.Cys511Phe
NM_022089.4:c.1532G>T MANE Select	NP_071372.1:p.Cys511Phe
NM_001141973.3:c.1517G>T	NP_001135445.1:p.Cys506Phe
NM_001141974.3:c.1517G>T	NP_001135446.1:p.Cys506Phe