Canonical Allele Identifier: CA338251948

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322520G>T (hg19) ; chr1:g.16996025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996025G>T , CM000663.2:g.16996025G>T	GRCh38
NC_000001.10:g.17322520G>T , CM000663.1:g.17322520G>T	GRCh37
NC_000001.9:g.17195107G>T	NCBI36
NG_009054.1:g.20904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1493C>A MANE Select	ENSP00000327214.8:p.Pro498Gln
ENST00000326735.12:c.1493C>A	ENSP00000327214.8:p.Pro498Gln
ENST00000341676.9:c.1478C>A	ENSP00000341115.5:p.Pro493Gln
ENST00000452699.5:c.1478C>A	ENSP00000413307.1:p.Pro493Gln
ENST00000463860.5:n.1101C>A
ENST00000502860.1:n.521C>A
ENST00000503552.1:c.170C>A	ENSP00000421126.1:p.Pro57Gln
ENST00000617114.4:c.521C>A	ENSP00000478781.1:p.Pro174Gln
NM_001141973.2:c.1478C>A	NP_001135445.1:p.Pro493Gln
NM_001141974.2:c.1478C>A	NP_001135446.1:p.Pro493Gln
NM_022089.3:c.1493C>A	NP_071372.1:p.Pro498Gln
XM_005245809.1:c.1493C>A	XP_005245866.1:p.Pro498Gln
XM_005245810.1:c.1490C>A	XP_005245867.1:p.Pro497Gln
XM_005245811.1:c.1478C>A	XP_005245868.1:p.Pro493Gln
XM_005245812.1:c.1466C>A	XP_005245869.1:p.Pro489Gln
XM_005245813.1:c.1493C>A	XP_005245870.1:p.Pro498Gln
XM_005245815.1:c.1493C>A	XP_005245872.1:p.Pro498Gln
XM_006710512.1:c.1475C>A	XP_006710575.1:p.Pro492Gln
XM_006710513.1:c.1451C>A	XP_006710576.1:p.Pro484Gln
XM_011541128.1:c.1493C>A	XP_011539430.1:p.Pro498Gln
XM_011541129.1:c.1493C>A	XP_011539431.1:p.Pro498Gln
XM_017000844.1:c.1493C>A	XP_016856333.1:p.Pro498Gln
XM_017000845.1:c.1475C>A	XP_016856334.1:p.Pro492Gln
XM_017000846.1:c.1451C>A	XP_016856335.1:p.Pro484Gln
XM_017000847.1:c.1463C>A	XP_016856336.1:p.Pro488Gln
XM_017000848.1:c.1493C>A	XP_016856337.1:p.Pro498Gln
XM_017000849.1:c.1478C>A	XP_016856338.1:p.Pro493Gln
XM_017000850.1:c.1493C>A	XP_016856339.1:p.Pro498Gln
NM_022089.4:c.1493C>A MANE Select	NP_071372.1:p.Pro498Gln
NM_001141973.3:c.1478C>A	NP_001135445.1:p.Pro493Gln
NM_001141974.3:c.1478C>A	NP_001135446.1:p.Pro493Gln