Canonical Allele Identifier: CA338234098

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986952-C-A
• MyVariant Identifiers: chr1:g.17313447C>A (hg19) ; chr1:g.16986952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986952C>A , CM000663.2:g.16986952C>A	GRCh38
NC_000001.10:g.17313447C>A , CM000663.1:g.17313447C>A	GRCh37
NC_000001.9:g.17186034C>A	NCBI36
NG_009054.1:g.29977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3088G>T MANE Select	ENSP00000327214.8:p.Val1030Leu
ENST00000326735.12:c.3088G>T	ENSP00000327214.8:p.Val1030Leu
ENST00000341676.9:c.2956G>T	ENSP00000341115.5:p.Val986Leu
ENST00000452699.5:c.3073G>T	ENSP00000413307.1:p.Val1025Leu
ENST00000466561.1:n.962G>T
ENST00000502418.1:c.676G>T	ENSP00000423065.1:p.Val226Leu
NM_001141973.2:c.3073G>T	NP_001135445.1:p.Val1025Leu
NM_001141974.2:c.2956G>T	NP_001135446.1:p.Val986Leu
NM_022089.3:c.3088G>T	NP_071372.1:p.Val1030Leu
XM_005245809.1:c.3088G>T	XP_005245866.1:p.Val1030Leu
XM_005245810.1:c.3085G>T	XP_005245867.1:p.Val1029Leu
XM_005245811.1:c.3073G>T	XP_005245868.1:p.Val1025Leu
XM_005245812.1:c.3061G>T	XP_005245869.1:p.Val1021Leu
XM_005245813.1:c.3028G>T	XP_005245870.1:p.Val1010Leu
XM_005245815.1:c.2971G>T	XP_005245872.1:p.Val991Leu
XM_006710512.1:c.3070G>T	XP_006710575.1:p.Val1024Leu
XM_006710513.1:c.3046G>T	XP_006710576.1:p.Val1016Leu
XM_011541128.1:c.3073G>T	XP_011539430.1:p.Val1025Leu
XM_011541129.1:c.2881G>T	XP_011539431.1:p.Val961Leu
XM_017000844.1:c.3073G>T	XP_016856333.1:p.Val1025Leu
XM_017000845.1:c.3070G>T	XP_016856334.1:p.Val1024Leu
XM_017000846.1:c.3046G>T	XP_016856335.1:p.Val1016Leu
XM_017000847.1:c.3043G>T	XP_016856336.1:p.Val1015Leu
XM_017000848.1:c.2971G>T	XP_016856337.1:p.Val991Leu
XM_017000849.1:c.2956G>T	XP_016856338.1:p.Val986Leu
XM_017000850.1:c.2881G>T	XP_016856339.1:p.Val961Leu
NM_022089.4:c.3088G>T MANE Select	NP_071372.1:p.Val1030Leu
NM_001141973.3:c.3073G>T	NP_001135445.1:p.Val1025Leu
NM_001141974.3:c.2956G>T	NP_001135446.1:p.Val986Leu