Canonical Allele Identifier: CA416093727

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986890-G-A
• MyVariant Identifiers: chr1:g.17313385G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986890G>A , CM000663.2:g.16986890G>A	GRCh38
NC_000001.10:g.17313385G>A , CM000663.1:g.17313385G>A	GRCh37
NC_000001.9:g.17185972G>A	NCBI36
NG_009054.1:g.30039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3150C>T MANE Select	ENSP00000327214.8:p.Val1050=
ENST00000326735.12:c.3150C>T	ENSP00000327214.8:p.Val1050=
ENST00000341676.9:c.3018C>T	ENSP00000341115.5:p.Val1006=
ENST00000452699.5:c.3135C>T	ENSP00000413307.1:p.Val1045=
ENST00000466561.1:n.1024C>T
ENST00000502418.1:c.738C>T	ENSP00000423065.1:p.Val246=
NM_001141973.2:c.3135C>T	NP_001135445.1:p.Val1045=
NM_001141974.2:c.3018C>T	NP_001135446.1:p.Val1006=
NM_022089.3:c.3150C>T	NP_071372.1:p.Val1050=
XM_005245809.1:c.3150C>T	XP_005245866.1:p.Val1050=
XM_005245810.1:c.3147C>T	XP_005245867.1:p.Val1049=
XM_005245811.1:c.3135C>T	XP_005245868.1:p.Val1045=
XM_005245812.1:c.3123C>T	XP_005245869.1:p.Val1041=
XM_005245813.1:c.3090C>T	XP_005245870.1:p.Val1030=
XM_005245815.1:c.3033C>T	XP_005245872.1:p.Val1011=
XM_006710512.1:c.3132C>T	XP_006710575.1:p.Val1044=
XM_006710513.1:c.3108C>T	XP_006710576.1:p.Val1036=
XM_011541128.1:c.3135C>T	XP_011539430.1:p.Val1045=
XM_011541129.1:c.2943C>T	XP_011539431.1:p.Val981=
XM_017000844.1:c.3135C>T	XP_016856333.1:p.Val1045=
XM_017000845.1:c.3132C>T	XP_016856334.1:p.Val1044=
XM_017000846.1:c.3108C>T	XP_016856335.1:p.Val1036=
XM_017000847.1:c.3105C>T	XP_016856336.1:p.Val1035=
XM_017000848.1:c.3033C>T	XP_016856337.1:p.Val1011=
XM_017000849.1:c.3018C>T	XP_016856338.1:p.Val1006=
XM_017000850.1:c.2943C>T	XP_016856339.1:p.Val981=
NM_022089.4:c.3150C>T MANE Select	NP_071372.1:p.Val1050=
NM_001141973.3:c.3135C>T	NP_001135445.1:p.Val1045=
NM_001141974.3:c.3018C>T	NP_001135446.1:p.Val1006=