Canonical Allele Identifier: CA338232332

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1257508403
• gnomAD v2: 1-17312789-T-A
• gnomAD v4: 1-16986294-T-A
• MyVariant Identifiers: chr1:g.17312789T>A (hg19) ; chr1:g.16986294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986294T>A , CM000663.2:g.16986294T>A	GRCh38
NC_000001.10:g.17312789T>A , CM000663.1:g.17312789T>A	GRCh37
NC_000001.9:g.17185376T>A	NCBI36
NG_009054.1:g.30635A>T
NG_029688.1:g.293A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3470A>T MANE Select	ENSP00000327214.8:p.Lys1157Met
ENST00000326735.12:c.3470A>T	ENSP00000327214.8:p.Lys1157Met
ENST00000341676.9:c.3168A>T	ENSP00000341115.5:p.Glu1056Asp
ENST00000452699.5:c.3455A>T	ENSP00000413307.1:p.Lys1152Met
ENST00000466561.1:n.1516A>T
ENST00000502418.1:c.888A>T	ENSP00000423065.1:p.Glu296Asp
NM_001141973.2:c.3455A>T	NP_001135445.1:p.Lys1152Met
NM_001141974.2:c.3168A>T	NP_001135446.1:p.Glu1056Asp
NM_022089.3:c.3470A>T	NP_071372.1:p.Lys1157Met
XM_005245809.1:c.3300A>T	XP_005245866.1:p.Glu1100Asp
XM_005245810.1:c.3297A>T	XP_005245867.1:p.Glu1099Asp
XM_005245811.1:c.3285A>T	XP_005245868.1:p.Glu1095Asp
XM_005245812.1:c.3273A>T	XP_005245869.1:p.Glu1091Asp
XM_005245813.1:c.3240A>T	XP_005245870.1:p.Glu1080Asp
XM_005245815.1:c.3183A>T	XP_005245872.1:p.Glu1061Asp
XM_006710512.1:c.3282A>T	XP_006710575.1:p.Glu1094Asp
XM_006710513.1:c.3258A>T	XP_006710576.1:p.Glu1086Asp
XM_011541128.1:c.3285A>T	XP_011539430.1:p.Glu1095Asp
XM_011541129.1:c.3093A>T	XP_011539431.1:p.Glu1031Asp
XM_017000844.1:c.3455A>T	XP_016856333.1:p.Lys1152Met
XM_017000845.1:c.3452A>T	XP_016856334.1:p.Lys1151Met
XM_017000846.1:c.3428A>T	XP_016856335.1:p.Lys1143Met
XM_017000847.1:c.3425A>T	XP_016856336.1:p.Lys1142Met
XM_017000848.1:c.3353A>T	XP_016856337.1:p.Lys1118Met
XM_017000849.1:c.3338A>T	XP_016856338.1:p.Lys1113Met
XM_017000850.1:c.3263A>T	XP_016856339.1:p.Lys1088Met
NM_022089.4:c.3470A>T MANE Select	NP_071372.1:p.Lys1157Met
NM_001141973.3:c.3455A>T	NP_001135445.1:p.Lys1152Met
NM_001141974.3:c.3168A>T	NP_001135446.1:p.Glu1056Asp