Canonical Allele Identifier: CA338232177

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312760C>G (hg19) ; chr1:g.16986265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986265C>G , CM000663.2:g.16986265C>G	GRCh38
NC_000001.10:g.17312760C>G , CM000663.1:g.17312760C>G	GRCh37
NC_000001.9:g.17185347C>G	NCBI36
NG_009054.1:g.30664G>C
NG_029688.1:g.322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3499G>C MANE Select	ENSP00000327214.8:p.Ala1167Pro
ENST00000326735.12:c.3499G>C	ENSP00000327214.8:p.Ala1167Pro
ENST00000341676.9:c.3197G>C	ENSP00000341115.5:p.Gly1066Ala
ENST00000452699.5:c.3484G>C	ENSP00000413307.1:p.Ala1162Pro
ENST00000466561.1:n.1545G>C
ENST00000502418.1:c.917G>C	ENSP00000423065.1:p.Gly306Ala
NM_001141973.2:c.3484G>C	NP_001135445.1:p.Ala1162Pro
NM_001141974.2:c.3197G>C	NP_001135446.1:p.Gly1066Ala
NM_022089.3:c.3499G>C	NP_071372.1:p.Ala1167Pro
XM_005245809.1:c.3329G>C	XP_005245866.1:p.Gly1110Ala
XM_005245810.1:c.3326G>C	XP_005245867.1:p.Gly1109Ala
XM_005245811.1:c.3314G>C	XP_005245868.1:p.Gly1105Ala
XM_005245812.1:c.3302G>C	XP_005245869.1:p.Gly1101Ala
XM_005245813.1:c.3269G>C	XP_005245870.1:p.Gly1090Ala
XM_005245815.1:c.3212G>C	XP_005245872.1:p.Gly1071Ala
XM_006710512.1:c.3311G>C	XP_006710575.1:p.Gly1104Ala
XM_006710513.1:c.3287G>C	XP_006710576.1:p.Gly1096Ala
XM_011541128.1:c.3314G>C	XP_011539430.1:p.Gly1105Ala
XM_011541129.1:c.3122G>C	XP_011539431.1:p.Gly1041Ala
XM_017000844.1:c.3484G>C	XP_016856333.1:p.Ala1162Pro
XM_017000845.1:c.3481G>C	XP_016856334.1:p.Ala1161Pro
XM_017000846.1:c.3457G>C	XP_016856335.1:p.Ala1153Pro
XM_017000847.1:c.3454G>C	XP_016856336.1:p.Ala1152Pro
XM_017000848.1:c.3382G>C	XP_016856337.1:p.Ala1128Pro
XM_017000849.1:c.3367G>C	XP_016856338.1:p.Ala1123Pro
XM_017000850.1:c.3292G>C	XP_016856339.1:p.Ala1098Pro
NM_022089.4:c.3499G>C MANE Select	NP_071372.1:p.Ala1167Pro
NM_001141973.3:c.3484G>C	NP_001135445.1:p.Ala1162Pro
NM_001141974.3:c.3197G>C	NP_001135446.1:p.Gly1066Ala