Canonical Allele Identifier: CA416093531

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986631-C-A
• MyVariant Identifiers: chr1:g.17313126C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986631C>A , CM000663.2:g.16986631C>A	GRCh38
NC_000001.10:g.17313126C>A , CM000663.1:g.17313126C>A	GRCh37
NC_000001.9:g.17185713C>A	NCBI36
NG_009054.1:g.30298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3237G>T MANE Select	ENSP00000327214.8:p.Val1079=
ENST00000326735.12:c.3237G>T	ENSP00000327214.8:p.Val1079=
ENST00000341676.9:c.3103+174G>T	ENSP00000341115.5:n.3103+174G>T
ENST00000452699.5:c.3222G>T	ENSP00000413307.1:p.Val1074=
ENST00000466561.1:n.1283G>T
ENST00000502418.1:c.823+174G>T	ENSP00000423065.1:n.823+174G>T
NM_001141973.2:c.3222G>T	NP_001135445.1:p.Val1074=
NM_001141974.2:c.3103+174G>T	NP_001135446.1:n.3103+174G>T
NM_022089.3:c.3237G>T	NP_071372.1:p.Val1079=
XM_005245809.1:c.3235+174G>T	XP_005245866.1:n.3235+174G>T
XM_005245810.1:c.3232+174G>T	XP_005245867.1:n.3232+174G>T
XM_005245811.1:c.3220+174G>T	XP_005245868.1:n.3220+174G>T
XM_005245812.1:c.3208+174G>T	XP_005245869.1:n.3208+174G>T
XM_005245813.1:c.3175+174G>T	XP_005245870.1:n.3175+174G>T
XM_005245815.1:c.3118+174G>T	XP_005245872.1:n.3118+174G>T
XM_006710512.1:c.3217+174G>T	XP_006710575.1:n.3217+174G>T
XM_006710513.1:c.3193+174G>T	XP_006710576.1:n.3193+174G>T
XM_011541128.1:c.3220+174G>T	XP_011539430.1:n.3220+174G>T
XM_011541129.1:c.3028+174G>T	XP_011539431.1:n.3028+174G>T
XM_017000844.1:c.3222G>T	XP_016856333.1:p.Val1074=
XM_017000845.1:c.3219G>T	XP_016856334.1:p.Val1073=
XM_017000846.1:c.3195G>T	XP_016856335.1:p.Val1065=
XM_017000847.1:c.3192G>T	XP_016856336.1:p.Val1064=
XM_017000848.1:c.3120G>T	XP_016856337.1:p.Val1040=
XM_017000849.1:c.3105G>T	XP_016856338.1:p.Val1035=
XM_017000850.1:c.3030G>T	XP_016856339.1:p.Val1010=
NM_022089.4:c.3237G>T MANE Select	NP_071372.1:p.Val1079=
NM_001141973.3:c.3222G>T	NP_001135445.1:p.Val1074=
NM_001141974.3:c.3103+174G>T	NP_001135446.1:n.3103+174G>T