Canonical Allele Identifier: CA338252294

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322565T>G (hg19) ; chr1:g.16996070T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996070T>G , CM000663.2:g.16996070T>G	GRCh38
NC_000001.10:g.17322565T>G , CM000663.1:g.17322565T>G	GRCh37
NC_000001.9:g.17195152T>G	NCBI36
NG_009054.1:g.20859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1448A>C MANE Select	ENSP00000327214.8:p.Tyr483Ser
ENST00000326735.12:c.1448A>C	ENSP00000327214.8:p.Tyr483Ser
ENST00000341676.9:c.1433A>C	ENSP00000341115.5:p.Tyr478Ser
ENST00000452699.5:c.1433A>C	ENSP00000413307.1:p.Tyr478Ser
ENST00000463860.5:n.1056A>C
ENST00000502860.1:n.476A>C
ENST00000503552.1:c.125A>C	ENSP00000421126.1:p.Tyr42Ser
ENST00000509392.1:n.536A>C
ENST00000617114.4:c.476A>C	ENSP00000478781.1:p.Tyr159Ser
NM_001141973.2:c.1433A>C	NP_001135445.1:p.Tyr478Ser
NM_001141974.2:c.1433A>C	NP_001135446.1:p.Tyr478Ser
NM_022089.3:c.1448A>C	NP_071372.1:p.Tyr483Ser
XM_005245809.1:c.1448A>C	XP_005245866.1:p.Tyr483Ser
XM_005245810.1:c.1445A>C	XP_005245867.1:p.Tyr482Ser
XM_005245811.1:c.1433A>C	XP_005245868.1:p.Tyr478Ser
XM_005245812.1:c.1421A>C	XP_005245869.1:p.Tyr474Ser
XM_005245813.1:c.1448A>C	XP_005245870.1:p.Tyr483Ser
XM_005245815.1:c.1448A>C	XP_005245872.1:p.Tyr483Ser
XM_006710512.1:c.1430A>C	XP_006710575.1:p.Tyr477Ser
XM_006710513.1:c.1406A>C	XP_006710576.1:p.Tyr469Ser
XM_011541128.1:c.1448A>C	XP_011539430.1:p.Tyr483Ser
XM_011541129.1:c.1448A>C	XP_011539431.1:p.Tyr483Ser
XM_017000844.1:c.1448A>C	XP_016856333.1:p.Tyr483Ser
XM_017000845.1:c.1430A>C	XP_016856334.1:p.Tyr477Ser
XM_017000846.1:c.1406A>C	XP_016856335.1:p.Tyr469Ser
XM_017000847.1:c.1418A>C	XP_016856336.1:p.Tyr473Ser
XM_017000848.1:c.1448A>C	XP_016856337.1:p.Tyr483Ser
XM_017000849.1:c.1433A>C	XP_016856338.1:p.Tyr478Ser
XM_017000850.1:c.1448A>C	XP_016856339.1:p.Tyr483Ser
NM_022089.4:c.1448A>C MANE Select	NP_071372.1:p.Tyr483Ser
NM_001141973.3:c.1433A>C	NP_001135445.1:p.Tyr478Ser
NM_001141974.3:c.1433A>C	NP_001135446.1:p.Tyr478Ser