Canonical Allele Identifier: CA338232010

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312738A>G (hg19) ; chr1:g.16986243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986243A>G , CM000663.2:g.16986243A>G	GRCh38
NC_000001.10:g.17312738A>G , CM000663.1:g.17312738A>G	GRCh37
NC_000001.9:g.17185325A>G	NCBI36
NG_009054.1:g.30686T>C
NG_029688.1:g.344T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3521T>C MANE Select	ENSP00000327214.8:p.Leu1174Pro
ENST00000326735.12:c.3521T>C	ENSP00000327214.8:p.Leu1174Pro
ENST00000341676.9:c.3219T>C	ENSP00000341115.5:p.Ala1073=
ENST00000452699.5:c.3506T>C	ENSP00000413307.1:p.Leu1169Pro
ENST00000466561.1:n.1567T>C
ENST00000502418.1:c.939T>C	ENSP00000423065.1:p.Ala313=
NM_001141973.2:c.3506T>C	NP_001135445.1:p.Leu1169Pro
NM_001141974.2:c.3219T>C	NP_001135446.1:p.Ala1073=
NM_022089.3:c.3521T>C	NP_071372.1:p.Leu1174Pro
XM_005245809.1:c.3351T>C	XP_005245866.1:p.Ala1117=
XM_005245810.1:c.3348T>C	XP_005245867.1:p.Ala1116=
XM_005245811.1:c.3336T>C	XP_005245868.1:p.Ala1112=
XM_005245812.1:c.3324T>C	XP_005245869.1:p.Ala1108=
XM_005245813.1:c.3291T>C	XP_005245870.1:p.Ala1097=
XM_005245815.1:c.3234T>C	XP_005245872.1:p.Ala1078=
XM_006710512.1:c.3333T>C	XP_006710575.1:p.Ala1111=
XM_006710513.1:c.3309T>C	XP_006710576.1:p.Ala1103=
XM_011541128.1:c.3336T>C	XP_011539430.1:p.Ala1112=
XM_011541129.1:c.3144T>C	XP_011539431.1:p.Ala1048=
XM_017000844.1:c.3506T>C	XP_016856333.1:p.Leu1169Pro
XM_017000845.1:c.3503T>C	XP_016856334.1:p.Leu1168Pro
XM_017000846.1:c.3479T>C	XP_016856335.1:p.Leu1160Pro
XM_017000847.1:c.3476T>C	XP_016856336.1:p.Leu1159Pro
XM_017000848.1:c.3404T>C	XP_016856337.1:p.Leu1135Pro
XM_017000849.1:c.3389T>C	XP_016856338.1:p.Leu1130Pro
XM_017000850.1:c.3314T>C	XP_016856339.1:p.Leu1105Pro
NM_022089.4:c.3521T>C MANE Select	NP_071372.1:p.Leu1174Pro
NM_001141973.3:c.3506T>C	NP_001135445.1:p.Leu1169Pro
NM_001141974.3:c.3219T>C	NP_001135446.1:p.Ala1073=