Canonical Allele Identifier: CA338240373

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316411C>G (hg19) ; chr1:g.16989916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989916C>G , CM000663.2:g.16989916C>G	GRCh38
NC_000001.10:g.17316411C>G , CM000663.1:g.17316411C>G	GRCh37
NC_000001.9:g.17188998C>G	NCBI36
NG_009054.1:g.27013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2500G>C MANE Select	ENSP00000327214.8:p.Val834Leu
ENST00000326735.12:c.2500G>C	ENSP00000327214.8:p.Val834Leu
ENST00000341676.9:c.2398-146G>C	ENSP00000341115.5:n.2398-146G>C
ENST00000452699.5:c.2485G>C	ENSP00000413307.1:p.Val829Leu
ENST00000466561.1:n.374G>C
ENST00000502418.1:c.88G>C	ENSP00000423065.1:p.Val30Leu
NM_001141973.2:c.2485G>C	NP_001135445.1:p.Val829Leu
NM_001141974.2:c.2398-146G>C	NP_001135446.1:n.2398-146G>C
NM_022089.3:c.2500G>C	NP_071372.1:p.Val834Leu
XM_005245809.1:c.2500G>C	XP_005245866.1:p.Val834Leu
XM_005245810.1:c.2497G>C	XP_005245867.1:p.Val833Leu
XM_005245811.1:c.2485G>C	XP_005245868.1:p.Val829Leu
XM_005245812.1:c.2473G>C	XP_005245869.1:p.Val825Leu
XM_005245813.1:c.2440G>C	XP_005245870.1:p.Val814Leu
XM_005245815.1:c.2413-146G>C	XP_005245872.1:n.2413-146G>C
XM_006710512.1:c.2482G>C	XP_006710575.1:p.Val828Leu
XM_006710513.1:c.2458G>C	XP_006710576.1:p.Val820Leu
XM_011541128.1:c.2485G>C	XP_011539430.1:p.Val829Leu
XM_011541129.1:c.2293G>C	XP_011539431.1:p.Val765Leu
XM_017000844.1:c.2485G>C	XP_016856333.1:p.Val829Leu
XM_017000845.1:c.2482G>C	XP_016856334.1:p.Val828Leu
XM_017000846.1:c.2458G>C	XP_016856335.1:p.Val820Leu
XM_017000847.1:c.2455G>C	XP_016856336.1:p.Val819Leu
XM_017000848.1:c.2413-146G>C	XP_016856337.1:n.2413-146G>C
XM_017000849.1:c.2398-146G>C	XP_016856338.1:n.2398-146G>C
XM_017000850.1:c.2293G>C	XP_016856339.1:p.Val765Leu
NM_022089.4:c.2500G>C MANE Select	NP_071372.1:p.Val834Leu
NM_001141973.3:c.2485G>C	NP_001135445.1:p.Val829Leu
NM_001141974.3:c.2398-146G>C	NP_001135446.1:n.2398-146G>C