Canonical Allele Identifier: CA338232211

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986274-G-C
• MyVariant Identifiers: chr1:g.17312769G>C (hg19) ; chr1:g.16986274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986274G>C , CM000663.2:g.16986274G>C	GRCh38
NC_000001.10:g.17312769G>C , CM000663.1:g.17312769G>C	GRCh37
NC_000001.9:g.17185356G>C	NCBI36
NG_009054.1:g.30655C>G
NG_029688.1:g.313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3490C>G MANE Select	ENSP00000327214.8:p.Arg1164Gly
ENST00000326735.12:c.3490C>G	ENSP00000327214.8:p.Arg1164Gly
ENST00000341676.9:c.3188C>G	ENSP00000341115.5:p.Thr1063Arg
ENST00000452699.5:c.3475C>G	ENSP00000413307.1:p.Arg1159Gly
ENST00000466561.1:n.1536C>G
ENST00000502418.1:c.908C>G	ENSP00000423065.1:p.Thr303Arg
NM_001141973.2:c.3475C>G	NP_001135445.1:p.Arg1159Gly
NM_001141974.2:c.3188C>G	NP_001135446.1:p.Thr1063Arg
NM_022089.3:c.3490C>G	NP_071372.1:p.Arg1164Gly
XM_005245809.1:c.3320C>G	XP_005245866.1:p.Thr1107Arg
XM_005245810.1:c.3317C>G	XP_005245867.1:p.Thr1106Arg
XM_005245811.1:c.3305C>G	XP_005245868.1:p.Thr1102Arg
XM_005245812.1:c.3293C>G	XP_005245869.1:p.Thr1098Arg
XM_005245813.1:c.3260C>G	XP_005245870.1:p.Thr1087Arg
XM_005245815.1:c.3203C>G	XP_005245872.1:p.Thr1068Arg
XM_006710512.1:c.3302C>G	XP_006710575.1:p.Thr1101Arg
XM_006710513.1:c.3278C>G	XP_006710576.1:p.Thr1093Arg
XM_011541128.1:c.3305C>G	XP_011539430.1:p.Thr1102Arg
XM_011541129.1:c.3113C>G	XP_011539431.1:p.Thr1038Arg
XM_017000844.1:c.3475C>G	XP_016856333.1:p.Arg1159Gly
XM_017000845.1:c.3472C>G	XP_016856334.1:p.Arg1158Gly
XM_017000846.1:c.3448C>G	XP_016856335.1:p.Arg1150Gly
XM_017000847.1:c.3445C>G	XP_016856336.1:p.Arg1149Gly
XM_017000848.1:c.3373C>G	XP_016856337.1:p.Arg1125Gly
XM_017000849.1:c.3358C>G	XP_016856338.1:p.Arg1120Gly
XM_017000850.1:c.3283C>G	XP_016856339.1:p.Arg1095Gly
NM_022089.4:c.3490C>G MANE Select	NP_071372.1:p.Arg1164Gly
NM_001141973.3:c.3475C>G	NP_001135445.1:p.Arg1159Gly
NM_001141974.3:c.3188C>G	NP_001135446.1:p.Thr1063Arg