Canonical Allele Identifier: CA338253181

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322766T>G (hg19) ; chr1:g.16996271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996271T>G , CM000663.2:g.16996271T>G	GRCh38
NC_000001.10:g.17322766T>G , CM000663.1:g.17322766T>G	GRCh37
NC_000001.9:g.17195353T>G	NCBI36
NG_009054.1:g.20658A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1336A>C MANE Select	ENSP00000327214.8:p.Ile446Leu
ENST00000326735.12:c.1336A>C	ENSP00000327214.8:p.Ile446Leu
ENST00000341676.9:c.1321A>C	ENSP00000341115.5:p.Ile441Leu
ENST00000452699.5:c.1321A>C	ENSP00000413307.1:p.Ile441Leu
ENST00000463860.5:n.944A>C
ENST00000502860.1:n.364A>C
ENST00000503552.1:c.13A>C	ENSP00000421126.1:p.Ile5Leu
ENST00000506174.5:c.478A>C	ENSP00000424393.1:p.Ile160Leu
ENST00000509392.1:n.424A>C
ENST00000617114.4:c.364A>C	ENSP00000478781.1:p.Ile122Leu
NM_001141973.2:c.1321A>C	NP_001135445.1:p.Ile441Leu
NM_001141974.2:c.1321A>C	NP_001135446.1:p.Ile441Leu
NM_022089.3:c.1336A>C	NP_071372.1:p.Ile446Leu
XM_005245809.1:c.1336A>C	XP_005245866.1:p.Ile446Leu
XM_005245810.1:c.1333A>C	XP_005245867.1:p.Ile445Leu
XM_005245811.1:c.1321A>C	XP_005245868.1:p.Ile441Leu
XM_005245812.1:c.1309A>C	XP_005245869.1:p.Ile437Leu
XM_005245813.1:c.1336A>C	XP_005245870.1:p.Ile446Leu
XM_005245815.1:c.1336A>C	XP_005245872.1:p.Ile446Leu
XM_006710512.1:c.1318A>C	XP_006710575.1:p.Ile440Leu
XM_006710513.1:c.1294A>C	XP_006710576.1:p.Ile432Leu
XM_011541128.1:c.1336A>C	XP_011539430.1:p.Ile446Leu
XM_011541129.1:c.1336A>C	XP_011539431.1:p.Ile446Leu
XM_017000844.1:c.1336A>C	XP_016856333.1:p.Ile446Leu
XM_017000845.1:c.1318A>C	XP_016856334.1:p.Ile440Leu
XM_017000846.1:c.1294A>C	XP_016856335.1:p.Ile432Leu
XM_017000847.1:c.1306A>C	XP_016856336.1:p.Ile436Leu
XM_017000848.1:c.1336A>C	XP_016856337.1:p.Ile446Leu
XM_017000849.1:c.1321A>C	XP_016856338.1:p.Ile441Leu
XM_017000850.1:c.1336A>C	XP_016856339.1:p.Ile446Leu
NM_022089.4:c.1336A>C MANE Select	NP_071372.1:p.Ile446Leu
NM_001141973.3:c.1321A>C	NP_001135445.1:p.Ile441Leu
NM_001141974.3:c.1321A>C	NP_001135446.1:p.Ile441Leu