Canonical Allele Identifier: CA338231479

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312661A>T (hg19) ; chr1:g.16986166A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986166A>T , CM000663.2:g.16986166A>T	GRCh38
NC_000001.10:g.17312661A>T , CM000663.1:g.17312661A>T	GRCh37
NC_000001.9:g.17185248A>T	NCBI36
NG_009054.1:g.30763T>A
NG_029688.1:g.421T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*55T>A MANE Select	ENSP00000327214.8:n.*55T>A
ENST00000326735.12:c.*55T>A	ENSP00000327214.8:n.*55T>A
ENST00000341676.9:c.3296T>A	ENSP00000341115.5:p.Leu1099Gln
ENST00000452699.5:c.*55T>A	ENSP00000413307.1:n.*55T>A
ENST00000466561.1:n.1644T>A
ENST00000502418.1:c.1016T>A	ENSP00000423065.1:p.Leu339Gln
NM_001141973.2:c.*55T>A	NP_001135445.1:n.*55T>A
NM_001141974.2:c.3296T>A	NP_001135446.1:p.Leu1099Gln
NM_022089.3:c.*55T>A	NP_071372.1:n.*55T>A
XM_005245809.1:c.3428T>A	XP_005245866.1:p.Leu1143Gln
XM_005245810.1:c.3425T>A	XP_005245867.1:p.Leu1142Gln
XM_005245811.1:c.3413T>A	XP_005245868.1:p.Leu1138Gln
XM_005245812.1:c.3401T>A	XP_005245869.1:p.Leu1134Gln
XM_005245813.1:c.3368T>A	XP_005245870.1:p.Leu1123Gln
XM_005245815.1:c.3311T>A	XP_005245872.1:p.Leu1104Gln
XM_006710512.1:c.3410T>A	XP_006710575.1:p.Leu1137Gln
XM_006710513.1:c.3386T>A	XP_006710576.1:p.Leu1129Gln
XM_011541128.1:c.3413T>A	XP_011539430.1:p.Leu1138Gln
XM_011541129.1:c.3221T>A	XP_011539431.1:p.Leu1074Gln
XM_017000844.1:c.*55T>A	XP_016856333.1:n.*55T>A
XM_017000845.1:c.*55T>A	XP_016856334.1:n.*55T>A
XM_017000846.1:c.*55T>A	XP_016856335.1:n.*55T>A
XM_017000847.1:c.*55T>A	XP_016856336.1:n.*55T>A
XM_017000848.1:c.*55T>A	XP_016856337.1:n.*55T>A
XM_017000849.1:c.*55T>A	XP_016856338.1:n.*55T>A
XM_017000850.1:c.*55T>A	XP_016856339.1:n.*55T>A
NM_022089.4:c.*55T>A MANE Select	NP_071372.1:n.*55T>A
NM_001141973.3:c.*55T>A	NP_001135445.1:n.*55T>A
NM_001141974.3:c.3296T>A	NP_001135446.1:p.Leu1099Gln