Canonical Allele Identifier: CA338232096

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312746C>G (hg19) ; chr1:g.16986251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986251C>G , CM000663.2:g.16986251C>G	GRCh38
NC_000001.10:g.17312746C>G , CM000663.1:g.17312746C>G	GRCh37
NC_000001.9:g.17185333C>G	NCBI36
NG_009054.1:g.30678G>C
NG_029688.1:g.336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3513G>C MANE Select	ENSP00000327214.8:p.Trp1171Cys
ENST00000326735.12:c.3513G>C	ENSP00000327214.8:p.Trp1171Cys
ENST00000341676.9:c.3211G>C	ENSP00000341115.5:p.Ala1071Pro
ENST00000452699.5:c.3498G>C	ENSP00000413307.1:p.Trp1166Cys
ENST00000466561.1:n.1559G>C
ENST00000502418.1:c.931G>C	ENSP00000423065.1:p.Ala311Pro
NM_001141973.2:c.3498G>C	NP_001135445.1:p.Trp1166Cys
NM_001141974.2:c.3211G>C	NP_001135446.1:p.Ala1071Pro
NM_022089.3:c.3513G>C	NP_071372.1:p.Trp1171Cys
XM_005245809.1:c.3343G>C	XP_005245866.1:p.Ala1115Pro
XM_005245810.1:c.3340G>C	XP_005245867.1:p.Ala1114Pro
XM_005245811.1:c.3328G>C	XP_005245868.1:p.Ala1110Pro
XM_005245812.1:c.3316G>C	XP_005245869.1:p.Ala1106Pro
XM_005245813.1:c.3283G>C	XP_005245870.1:p.Ala1095Pro
XM_005245815.1:c.3226G>C	XP_005245872.1:p.Ala1076Pro
XM_006710512.1:c.3325G>C	XP_006710575.1:p.Ala1109Pro
XM_006710513.1:c.3301G>C	XP_006710576.1:p.Ala1101Pro
XM_011541128.1:c.3328G>C	XP_011539430.1:p.Ala1110Pro
XM_011541129.1:c.3136G>C	XP_011539431.1:p.Ala1046Pro
XM_017000844.1:c.3498G>C	XP_016856333.1:p.Trp1166Cys
XM_017000845.1:c.3495G>C	XP_016856334.1:p.Trp1165Cys
XM_017000846.1:c.3471G>C	XP_016856335.1:p.Trp1157Cys
XM_017000847.1:c.3468G>C	XP_016856336.1:p.Trp1156Cys
XM_017000848.1:c.3396G>C	XP_016856337.1:p.Trp1132Cys
XM_017000849.1:c.3381G>C	XP_016856338.1:p.Trp1127Cys
XM_017000850.1:c.3306G>C	XP_016856339.1:p.Trp1102Cys
NM_022089.4:c.3513G>C MANE Select	NP_071372.1:p.Trp1171Cys
NM_001141973.3:c.3498G>C	NP_001135445.1:p.Trp1166Cys
NM_001141974.3:c.3211G>C	NP_001135446.1:p.Ala1071Pro