Canonical Allele Identifier: CA338233573

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313374G>A (hg19) ; chr1:g.16986879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986879G>A , CM000663.2:g.16986879G>A	GRCh38
NC_000001.10:g.17313374G>A , CM000663.1:g.17313374G>A	GRCh37
NC_000001.9:g.17185961G>A	NCBI36
NG_009054.1:g.30050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3161C>T MANE Select	ENSP00000327214.8:p.Ser1054Phe
ENST00000326735.12:c.3161C>T	ENSP00000327214.8:p.Ser1054Phe
ENST00000341676.9:c.3029C>T	ENSP00000341115.5:p.Ser1010Phe
ENST00000452699.5:c.3146C>T	ENSP00000413307.1:p.Ser1049Phe
ENST00000466561.1:n.1035C>T
ENST00000502418.1:c.749C>T	ENSP00000423065.1:p.Ser250Phe
NM_001141973.2:c.3146C>T	NP_001135445.1:p.Ser1049Phe
NM_001141974.2:c.3029C>T	NP_001135446.1:p.Ser1010Phe
NM_022089.3:c.3161C>T	NP_071372.1:p.Ser1054Phe
XM_005245809.1:c.3161C>T	XP_005245866.1:p.Ser1054Phe
XM_005245810.1:c.3158C>T	XP_005245867.1:p.Ser1053Phe
XM_005245811.1:c.3146C>T	XP_005245868.1:p.Ser1049Phe
XM_005245812.1:c.3134C>T	XP_005245869.1:p.Ser1045Phe
XM_005245813.1:c.3101C>T	XP_005245870.1:p.Ser1034Phe
XM_005245815.1:c.3044C>T	XP_005245872.1:p.Ser1015Phe
XM_006710512.1:c.3143C>T	XP_006710575.1:p.Ser1048Phe
XM_006710513.1:c.3119C>T	XP_006710576.1:p.Ser1040Phe
XM_011541128.1:c.3146C>T	XP_011539430.1:p.Ser1049Phe
XM_011541129.1:c.2954C>T	XP_011539431.1:p.Ser985Phe
XM_017000844.1:c.3146C>T	XP_016856333.1:p.Ser1049Phe
XM_017000845.1:c.3143C>T	XP_016856334.1:p.Ser1048Phe
XM_017000846.1:c.3119C>T	XP_016856335.1:p.Ser1040Phe
XM_017000847.1:c.3116C>T	XP_016856336.1:p.Ser1039Phe
XM_017000848.1:c.3044C>T	XP_016856337.1:p.Ser1015Phe
XM_017000849.1:c.3029C>T	XP_016856338.1:p.Ser1010Phe
XM_017000850.1:c.2954C>T	XP_016856339.1:p.Ser985Phe
NM_022089.4:c.3161C>T MANE Select	NP_071372.1:p.Ser1054Phe
NM_001141973.3:c.3146C>T	NP_001135445.1:p.Ser1049Phe
NM_001141974.3:c.3029C>T	NP_001135446.1:p.Ser1010Phe