Canonical Allele Identifier: CA338232504

Gene: ATP13A2

Linked Data

• dbSNP Id: rs151181674
• MyVariant Identifiers: chr1:g.17312829C>G (hg19) ; chr1:g.16986334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986334C>G , CM000663.2:g.16986334C>G	GRCh38
NC_000001.10:g.17312829C>G , CM000663.1:g.17312829C>G	GRCh37
NC_000001.9:g.17185416C>G	NCBI36
NG_009054.1:g.30595G>C
NG_029688.1:g.253G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3430G>C MANE Select	ENSP00000327214.8:p.Ala1144Pro
ENST00000326735.12:c.3430G>C	ENSP00000327214.8:p.Ala1144Pro
ENST00000341676.9:c.3128G>C	ENSP00000341115.5:p.Arg1043Pro
ENST00000452699.5:c.3415G>C	ENSP00000413307.1:p.Ala1139Pro
ENST00000466561.1:n.1476G>C
ENST00000502418.1:c.848G>C	ENSP00000423065.1:p.Arg283Pro
NM_001141973.2:c.3415G>C	NP_001135445.1:p.Ala1139Pro
NM_001141974.2:c.3128G>C	NP_001135446.1:p.Arg1043Pro
NM_022089.3:c.3430G>C	NP_071372.1:p.Ala1144Pro
XM_005245809.1:c.3260G>C	XP_005245866.1:p.Arg1087Pro
XM_005245810.1:c.3257G>C	XP_005245867.1:p.Arg1086Pro
XM_005245811.1:c.3245G>C	XP_005245868.1:p.Arg1082Pro
XM_005245812.1:c.3233G>C	XP_005245869.1:p.Arg1078Pro
XM_005245813.1:c.3200G>C	XP_005245870.1:p.Arg1067Pro
XM_005245815.1:c.3143G>C	XP_005245872.1:p.Arg1048Pro
XM_006710512.1:c.3242G>C	XP_006710575.1:p.Arg1081Pro
XM_006710513.1:c.3218G>C	XP_006710576.1:p.Arg1073Pro
XM_011541128.1:c.3245G>C	XP_011539430.1:p.Arg1082Pro
XM_011541129.1:c.3053G>C	XP_011539431.1:p.Arg1018Pro
XM_017000844.1:c.3415G>C	XP_016856333.1:p.Ala1139Pro
XM_017000845.1:c.3412G>C	XP_016856334.1:p.Ala1138Pro
XM_017000846.1:c.3388G>C	XP_016856335.1:p.Ala1130Pro
XM_017000847.1:c.3385G>C	XP_016856336.1:p.Ala1129Pro
XM_017000848.1:c.3313G>C	XP_016856337.1:p.Ala1105Pro
XM_017000849.1:c.3298G>C	XP_016856338.1:p.Ala1100Pro
XM_017000850.1:c.3223G>C	XP_016856339.1:p.Ala1075Pro
NM_022089.4:c.3430G>C MANE Select	NP_071372.1:p.Ala1144Pro
NM_001141973.3:c.3415G>C	NP_001135445.1:p.Ala1139Pro
NM_001141974.3:c.3128G>C	NP_001135446.1:p.Arg1043Pro