Canonical Allele Identifier: CA338233261

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313300C>G (hg19) ; chr1:g.16986805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986805C>G , CM000663.2:g.16986805C>G	GRCh38
NC_000001.10:g.17313300C>G , CM000663.1:g.17313300C>G	GRCh37
NC_000001.9:g.17185887C>G	NCBI36
NG_009054.1:g.30124G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3235G>C MANE Select	ENSP00000327214.8:p.Val1079Leu
ENST00000326735.12:c.3235G>C	ENSP00000327214.8:p.Val1079Leu
ENST00000341676.9:c.3103G>C	ENSP00000341115.5:p.Glu1035Gln
ENST00000452699.5:c.3220G>C	ENSP00000413307.1:p.Val1074Leu
ENST00000466561.1:n.1109G>C
ENST00000502418.1:c.823G>C	ENSP00000423065.1:p.Glu275Gln
NM_001141973.2:c.3220G>C	NP_001135445.1:p.Val1074Leu
NM_001141974.2:c.3103G>C	NP_001135446.1:p.Glu1035Gln
NM_022089.3:c.3235G>C	NP_071372.1:p.Val1079Leu
XM_005245809.1:c.3235G>C	XP_005245866.1:p.Glu1079Gln
XM_005245810.1:c.3232G>C	XP_005245867.1:p.Glu1078Gln
XM_005245811.1:c.3220G>C	XP_005245868.1:p.Glu1074Gln
XM_005245812.1:c.3208G>C	XP_005245869.1:p.Glu1070Gln
XM_005245813.1:c.3175G>C	XP_005245870.1:p.Glu1059Gln
XM_005245815.1:c.3118G>C	XP_005245872.1:p.Glu1040Gln
XM_006710512.1:c.3217G>C	XP_006710575.1:p.Glu1073Gln
XM_006710513.1:c.3193G>C	XP_006710576.1:p.Glu1065Gln
XM_011541128.1:c.3220G>C	XP_011539430.1:p.Glu1074Gln
XM_011541129.1:c.3028G>C	XP_011539431.1:p.Glu1010Gln
XM_017000844.1:c.3220G>C	XP_016856333.1:p.Val1074Leu
XM_017000845.1:c.3217G>C	XP_016856334.1:p.Val1073Leu
XM_017000846.1:c.3193G>C	XP_016856335.1:p.Val1065Leu
XM_017000847.1:c.3190G>C	XP_016856336.1:p.Val1064Leu
XM_017000848.1:c.3118G>C	XP_016856337.1:p.Val1040Leu
XM_017000849.1:c.3103G>C	XP_016856338.1:p.Val1035Leu
XM_017000850.1:c.3028G>C	XP_016856339.1:p.Val1010Leu
NM_022089.4:c.3235G>C MANE Select	NP_071372.1:p.Val1079Leu
NM_001141973.3:c.3220G>C	NP_001135445.1:p.Val1074Leu
NM_001141974.3:c.3103G>C	NP_001135446.1:p.Glu1035Gln