Canonical Allele Identifier: CA338232582

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986351-A-G
• MyVariant Identifiers: chr1:g.17312846A>G (hg19) ; chr1:g.16986351A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986351A>G , CM000663.2:g.16986351A>G	GRCh38
NC_000001.10:g.17312846A>G , CM000663.1:g.17312846A>G	GRCh37
NC_000001.9:g.17185433A>G	NCBI36
NG_009054.1:g.30578T>C
NG_029688.1:g.236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3413T>C MANE Select	ENSP00000327214.8:p.Leu1138Pro
ENST00000326735.12:c.3413T>C	ENSP00000327214.8:p.Leu1138Pro
ENST00000341676.9:c.3111T>C	ENSP00000341115.5:p.Ala1037=
ENST00000452699.5:c.3398T>C	ENSP00000413307.1:p.Leu1133Pro
ENST00000466561.1:n.1459T>C
ENST00000502418.1:c.831T>C	ENSP00000423065.1:p.Ala277=
NM_001141973.2:c.3398T>C	NP_001135445.1:p.Leu1133Pro
NM_001141974.2:c.3111T>C	NP_001135446.1:p.Ala1037=
NM_022089.3:c.3413T>C	NP_071372.1:p.Leu1138Pro
XM_005245809.1:c.3243T>C	XP_005245866.1:p.Ala1081=
XM_005245810.1:c.3240T>C	XP_005245867.1:p.Ala1080=
XM_005245811.1:c.3228T>C	XP_005245868.1:p.Ala1076=
XM_005245812.1:c.3216T>C	XP_005245869.1:p.Ala1072=
XM_005245813.1:c.3183T>C	XP_005245870.1:p.Ala1061=
XM_005245815.1:c.3126T>C	XP_005245872.1:p.Ala1042=
XM_006710512.1:c.3225T>C	XP_006710575.1:p.Ala1075=
XM_006710513.1:c.3201T>C	XP_006710576.1:p.Ala1067=
XM_011541128.1:c.3228T>C	XP_011539430.1:p.Ala1076=
XM_011541129.1:c.3036T>C	XP_011539431.1:p.Ala1012=
XM_017000844.1:c.3398T>C	XP_016856333.1:p.Leu1133Pro
XM_017000845.1:c.3395T>C	XP_016856334.1:p.Leu1132Pro
XM_017000846.1:c.3371T>C	XP_016856335.1:p.Leu1124Pro
XM_017000847.1:c.3368T>C	XP_016856336.1:p.Leu1123Pro
XM_017000848.1:c.3296T>C	XP_016856337.1:p.Leu1099Pro
XM_017000849.1:c.3281T>C	XP_016856338.1:p.Leu1094Pro
XM_017000850.1:c.3206T>C	XP_016856339.1:p.Leu1069Pro
NM_022089.4:c.3413T>C MANE Select	NP_071372.1:p.Leu1138Pro
NM_001141973.3:c.3398T>C	NP_001135445.1:p.Leu1133Pro
NM_001141974.3:c.3111T>C	NP_001135446.1:p.Ala1037=