Canonical Allele Identifier: CA338232517

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312832G>C (hg19) ; chr1:g.16986337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986337G>C , CM000663.2:g.16986337G>C	GRCh38
NC_000001.10:g.17312832G>C , CM000663.1:g.17312832G>C	GRCh37
NC_000001.9:g.17185419G>C	NCBI36
NG_009054.1:g.30592C>G
NG_029688.1:g.250C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3427C>G MANE Select	ENSP00000327214.8:p.Pro1143Ala
ENST00000326735.12:c.3427C>G	ENSP00000327214.8:p.Pro1143Ala
ENST00000341676.9:c.3125C>G	ENSP00000341115.5:p.Pro1042Arg
ENST00000452699.5:c.3412C>G	ENSP00000413307.1:p.Pro1138Ala
ENST00000466561.1:n.1473C>G
ENST00000502418.1:c.845C>G	ENSP00000423065.1:p.Pro282Arg
NM_001141973.2:c.3412C>G	NP_001135445.1:p.Pro1138Ala
NM_001141974.2:c.3125C>G	NP_001135446.1:p.Pro1042Arg
NM_022089.3:c.3427C>G	NP_071372.1:p.Pro1143Ala
XM_005245809.1:c.3257C>G	XP_005245866.1:p.Pro1086Arg
XM_005245810.1:c.3254C>G	XP_005245867.1:p.Pro1085Arg
XM_005245811.1:c.3242C>G	XP_005245868.1:p.Pro1081Arg
XM_005245812.1:c.3230C>G	XP_005245869.1:p.Pro1077Arg
XM_005245813.1:c.3197C>G	XP_005245870.1:p.Pro1066Arg
XM_005245815.1:c.3140C>G	XP_005245872.1:p.Pro1047Arg
XM_006710512.1:c.3239C>G	XP_006710575.1:p.Pro1080Arg
XM_006710513.1:c.3215C>G	XP_006710576.1:p.Pro1072Arg
XM_011541128.1:c.3242C>G	XP_011539430.1:p.Pro1081Arg
XM_011541129.1:c.3050C>G	XP_011539431.1:p.Pro1017Arg
XM_017000844.1:c.3412C>G	XP_016856333.1:p.Pro1138Ala
XM_017000845.1:c.3409C>G	XP_016856334.1:p.Pro1137Ala
XM_017000846.1:c.3385C>G	XP_016856335.1:p.Pro1129Ala
XM_017000847.1:c.3382C>G	XP_016856336.1:p.Pro1128Ala
XM_017000848.1:c.3310C>G	XP_016856337.1:p.Pro1104Ala
XM_017000849.1:c.3295C>G	XP_016856338.1:p.Pro1099Ala
XM_017000850.1:c.3220C>G	XP_016856339.1:p.Pro1074Ala
NM_022089.4:c.3427C>G MANE Select	NP_071372.1:p.Pro1143Ala
NM_001141973.3:c.3412C>G	NP_001135445.1:p.Pro1138Ala
NM_001141974.3:c.3125C>G	NP_001135446.1:p.Pro1042Arg