Canonical Allele Identifier: CA636462

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 856355
• ClinVar RCV Id: RCV001061799 ; RCV001092584
• dbSNP Id: rs372995036
• ExAC: 1:17312741 G / A
• gnomAD v2: 1-17312741-G-A
• gnomAD v3: 1-16986246-G-A
• gnomAD v4: 1-16986246-G-A
• MyVariant Identifiers: chr1:g.17312741G>A (hg19) ; chr1:g.16986246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986246G>A , CM000663.2:g.16986246G>A	GRCh38
NC_000001.10:g.17312741G>A , CM000663.1:g.17312741G>A	GRCh37
NC_000001.9:g.17185328G>A	NCBI36
NG_009054.1:g.30683C>T
NG_029688.1:g.341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3518C>T MANE Select	ENSP00000327214.8:p.Pro1173Leu
ENST00000326735.12:c.3518C>T	ENSP00000327214.8:p.Pro1173Leu
ENST00000341676.9:c.3216C>T	ENSP00000341115.5:p.Ala1072=
ENST00000452699.5:c.3503C>T	ENSP00000413307.1:p.Pro1168Leu
ENST00000466561.1:n.1564C>T
ENST00000502418.1:c.936C>T	ENSP00000423065.1:p.Ala312=
NM_001141973.2:c.3503C>T	NP_001135445.1:p.Pro1168Leu
NM_001141974.2:c.3216C>T	NP_001135446.1:p.Ala1072=
NM_022089.3:c.3518C>T	NP_071372.1:p.Pro1173Leu
XM_005245809.1:c.3348C>T	XP_005245866.1:p.Ala1116=
XM_005245810.1:c.3345C>T	XP_005245867.1:p.Ala1115=
XM_005245811.1:c.3333C>T	XP_005245868.1:p.Ala1111=
XM_005245812.1:c.3321C>T	XP_005245869.1:p.Ala1107=
XM_005245813.1:c.3288C>T	XP_005245870.1:p.Ala1096=
XM_005245815.1:c.3231C>T	XP_005245872.1:p.Ala1077=
XM_006710512.1:c.3330C>T	XP_006710575.1:p.Ala1110=
XM_006710513.1:c.3306C>T	XP_006710576.1:p.Ala1102=
XM_011541128.1:c.3333C>T	XP_011539430.1:p.Ala1111=
XM_011541129.1:c.3141C>T	XP_011539431.1:p.Ala1047=
XM_017000844.1:c.3503C>T	XP_016856333.1:p.Pro1168Leu
XM_017000845.1:c.3500C>T	XP_016856334.1:p.Pro1167Leu
XM_017000846.1:c.3476C>T	XP_016856335.1:p.Pro1159Leu
XM_017000847.1:c.3473C>T	XP_016856336.1:p.Pro1158Leu
XM_017000848.1:c.3401C>T	XP_016856337.1:p.Pro1134Leu
XM_017000849.1:c.3386C>T	XP_016856338.1:p.Pro1129Leu
XM_017000850.1:c.3311C>T	XP_016856339.1:p.Pro1104Leu
NM_022089.4:c.3518C>T MANE Select	NP_071372.1:p.Pro1173Leu
NM_001141973.3:c.3503C>T	NP_001135445.1:p.Pro1168Leu
NM_001141974.3:c.3216C>T	NP_001135446.1:p.Ala1072=