Canonical Allele Identifier: CA338233582

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313375A>G (hg19) ; chr1:g.16986880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986880A>G , CM000663.2:g.16986880A>G	GRCh38
NC_000001.10:g.17313375A>G , CM000663.1:g.17313375A>G	GRCh37
NC_000001.9:g.17185962A>G	NCBI36
NG_009054.1:g.30049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3160T>C MANE Select	ENSP00000327214.8:p.Ser1054Pro
ENST00000326735.12:c.3160T>C	ENSP00000327214.8:p.Ser1054Pro
ENST00000341676.9:c.3028T>C	ENSP00000341115.5:p.Ser1010Pro
ENST00000452699.5:c.3145T>C	ENSP00000413307.1:p.Ser1049Pro
ENST00000466561.1:n.1034T>C
ENST00000502418.1:c.748T>C	ENSP00000423065.1:p.Ser250Pro
NM_001141973.2:c.3145T>C	NP_001135445.1:p.Ser1049Pro
NM_001141974.2:c.3028T>C	NP_001135446.1:p.Ser1010Pro
NM_022089.3:c.3160T>C	NP_071372.1:p.Ser1054Pro
XM_005245809.1:c.3160T>C	XP_005245866.1:p.Ser1054Pro
XM_005245810.1:c.3157T>C	XP_005245867.1:p.Ser1053Pro
XM_005245811.1:c.3145T>C	XP_005245868.1:p.Ser1049Pro
XM_005245812.1:c.3133T>C	XP_005245869.1:p.Ser1045Pro
XM_005245813.1:c.3100T>C	XP_005245870.1:p.Ser1034Pro
XM_005245815.1:c.3043T>C	XP_005245872.1:p.Ser1015Pro
XM_006710512.1:c.3142T>C	XP_006710575.1:p.Ser1048Pro
XM_006710513.1:c.3118T>C	XP_006710576.1:p.Ser1040Pro
XM_011541128.1:c.3145T>C	XP_011539430.1:p.Ser1049Pro
XM_011541129.1:c.2953T>C	XP_011539431.1:p.Ser985Pro
XM_017000844.1:c.3145T>C	XP_016856333.1:p.Ser1049Pro
XM_017000845.1:c.3142T>C	XP_016856334.1:p.Ser1048Pro
XM_017000846.1:c.3118T>C	XP_016856335.1:p.Ser1040Pro
XM_017000847.1:c.3115T>C	XP_016856336.1:p.Ser1039Pro
XM_017000848.1:c.3043T>C	XP_016856337.1:p.Ser1015Pro
XM_017000849.1:c.3028T>C	XP_016856338.1:p.Ser1010Pro
XM_017000850.1:c.2953T>C	XP_016856339.1:p.Ser985Pro
NM_022089.4:c.3160T>C MANE Select	NP_071372.1:p.Ser1054Pro
NM_001141973.3:c.3145T>C	NP_001135445.1:p.Ser1049Pro
NM_001141974.3:c.3028T>C	NP_001135446.1:p.Ser1010Pro