Canonical Allele Identifier: CA338233262

Gene: ATP13A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3235G>A MANE Select	ENSP00000327214.8:p.Val1079Met
ENST00000326735.12:c.3235G>A	ENSP00000327214.8:p.Val1079Met
ENST00000341676.9:c.3103G>A	ENSP00000341115.5:p.Glu1035Lys
ENST00000452699.5:c.3220G>A	ENSP00000413307.1:p.Val1074Met
ENST00000466561.1:n.1109G>A
ENST00000502418.1:c.823G>A	ENSP00000423065.1:p.Glu275Lys
NM_001141973.2:c.3220G>A	NP_001135445.1:p.Val1074Met
NM_001141974.2:c.3103G>A	NP_001135446.1:p.Glu1035Lys
NM_022089.3:c.3235G>A	NP_071372.1:p.Val1079Met
XM_005245809.1:c.3235G>A	XP_005245866.1:p.Glu1079Lys
XM_005245810.1:c.3232G>A	XP_005245867.1:p.Glu1078Lys
XM_005245811.1:c.3220G>A	XP_005245868.1:p.Glu1074Lys
XM_005245812.1:c.3208G>A	XP_005245869.1:p.Glu1070Lys
XM_005245813.1:c.3175G>A	XP_005245870.1:p.Glu1059Lys
XM_005245815.1:c.3118G>A	XP_005245872.1:p.Glu1040Lys
XM_006710512.1:c.3217G>A	XP_006710575.1:p.Glu1073Lys
XM_006710513.1:c.3193G>A	XP_006710576.1:p.Glu1065Lys
XM_011541128.1:c.3220G>A	XP_011539430.1:p.Glu1074Lys
XM_011541129.1:c.3028G>A	XP_011539431.1:p.Glu1010Lys
XM_017000844.1:c.3220G>A	XP_016856333.1:p.Val1074Met
XM_017000845.1:c.3217G>A	XP_016856334.1:p.Val1073Met
XM_017000846.1:c.3193G>A	XP_016856335.1:p.Val1065Met
XM_017000847.1:c.3190G>A	XP_016856336.1:p.Val1064Met
XM_017000848.1:c.3118G>A	XP_016856337.1:p.Val1040Met
XM_017000849.1:c.3103G>A	XP_016856338.1:p.Val1035Met
XM_017000850.1:c.3028G>A	XP_016856339.1:p.Val1010Met
NM_022089.4:c.3235G>A MANE Select	NP_071372.1:p.Val1079Met
NM_001141973.3:c.3220G>A	NP_001135445.1:p.Val1074Met
NM_001141974.3:c.3103G>A	NP_001135446.1:p.Glu1035Lys