Canonical Allele Identifier: CA338233476

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313354G>C (hg19) ; chr1:g.16986859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986859G>C , CM000663.2:g.16986859G>C	GRCh38
NC_000001.10:g.17313354G>C , CM000663.1:g.17313354G>C	GRCh37
NC_000001.9:g.17185941G>C	NCBI36
NG_009054.1:g.30070C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3181C>G MANE Select	ENSP00000327214.8:p.Leu1061Val
ENST00000326735.12:c.3181C>G	ENSP00000327214.8:p.Leu1061Val
ENST00000341676.9:c.3049C>G	ENSP00000341115.5:p.Leu1017Val
ENST00000452699.5:c.3166C>G	ENSP00000413307.1:p.Leu1056Val
ENST00000466561.1:n.1055C>G
ENST00000502418.1:c.769C>G	ENSP00000423065.1:p.Leu257Val
NM_001141973.2:c.3166C>G	NP_001135445.1:p.Leu1056Val
NM_001141974.2:c.3049C>G	NP_001135446.1:p.Leu1017Val
NM_022089.3:c.3181C>G	NP_071372.1:p.Leu1061Val
XM_005245809.1:c.3181C>G	XP_005245866.1:p.Leu1061Val
XM_005245810.1:c.3178C>G	XP_005245867.1:p.Leu1060Val
XM_005245811.1:c.3166C>G	XP_005245868.1:p.Leu1056Val
XM_005245812.1:c.3154C>G	XP_005245869.1:p.Leu1052Val
XM_005245813.1:c.3121C>G	XP_005245870.1:p.Leu1041Val
XM_005245815.1:c.3064C>G	XP_005245872.1:p.Leu1022Val
XM_006710512.1:c.3163C>G	XP_006710575.1:p.Leu1055Val
XM_006710513.1:c.3139C>G	XP_006710576.1:p.Leu1047Val
XM_011541128.1:c.3166C>G	XP_011539430.1:p.Leu1056Val
XM_011541129.1:c.2974C>G	XP_011539431.1:p.Leu992Val
XM_017000844.1:c.3166C>G	XP_016856333.1:p.Leu1056Val
XM_017000845.1:c.3163C>G	XP_016856334.1:p.Leu1055Val
XM_017000846.1:c.3139C>G	XP_016856335.1:p.Leu1047Val
XM_017000847.1:c.3136C>G	XP_016856336.1:p.Leu1046Val
XM_017000848.1:c.3064C>G	XP_016856337.1:p.Leu1022Val
XM_017000849.1:c.3049C>G	XP_016856338.1:p.Leu1017Val
XM_017000850.1:c.2974C>G	XP_016856339.1:p.Leu992Val
NM_022089.4:c.3181C>G MANE Select	NP_071372.1:p.Leu1061Val
NM_001141973.3:c.3166C>G	NP_001135445.1:p.Leu1056Val
NM_001141974.3:c.3049C>G	NP_001135446.1:p.Leu1017Val