Canonical Allele Identifier: CA338232408

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312805T>A (hg19) ; chr1:g.16986310T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986310T>A , CM000663.2:g.16986310T>A	GRCh38
NC_000001.10:g.17312805T>A , CM000663.1:g.17312805T>A	GRCh37
NC_000001.9:g.17185392T>A	NCBI36
NG_009054.1:g.30619A>T
NG_029688.1:g.277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3454A>T MANE Select	ENSP00000327214.8:p.Lys1152Ter
ENST00000326735.12:c.3454A>T	ENSP00000327214.8:p.Lys1152Ter
ENST00000341676.9:c.3152A>T	ENSP00000341115.5:p.Gln1051Leu
ENST00000452699.5:c.3439A>T	ENSP00000413307.1:p.Lys1147Ter
ENST00000466561.1:n.1500A>T
ENST00000502418.1:c.872A>T	ENSP00000423065.1:p.Gln291Leu
NM_001141973.2:c.3439A>T	NP_001135445.1:p.Lys1147Ter
NM_001141974.2:c.3152A>T	NP_001135446.1:p.Gln1051Leu
NM_022089.3:c.3454A>T	NP_071372.1:p.Lys1152Ter
XM_005245809.1:c.3284A>T	XP_005245866.1:p.Gln1095Leu
XM_005245810.1:c.3281A>T	XP_005245867.1:p.Gln1094Leu
XM_005245811.1:c.3269A>T	XP_005245868.1:p.Gln1090Leu
XM_005245812.1:c.3257A>T	XP_005245869.1:p.Gln1086Leu
XM_005245813.1:c.3224A>T	XP_005245870.1:p.Gln1075Leu
XM_005245815.1:c.3167A>T	XP_005245872.1:p.Gln1056Leu
XM_006710512.1:c.3266A>T	XP_006710575.1:p.Gln1089Leu
XM_006710513.1:c.3242A>T	XP_006710576.1:p.Gln1081Leu
XM_011541128.1:c.3269A>T	XP_011539430.1:p.Gln1090Leu
XM_011541129.1:c.3077A>T	XP_011539431.1:p.Gln1026Leu
XM_017000844.1:c.3439A>T	XP_016856333.1:p.Lys1147Ter
XM_017000845.1:c.3436A>T	XP_016856334.1:p.Lys1146Ter
XM_017000846.1:c.3412A>T	XP_016856335.1:p.Lys1138Ter
XM_017000847.1:c.3409A>T	XP_016856336.1:p.Lys1137Ter
XM_017000848.1:c.3337A>T	XP_016856337.1:p.Lys1113Ter
XM_017000849.1:c.3322A>T	XP_016856338.1:p.Lys1108Ter
XM_017000850.1:c.3247A>T	XP_016856339.1:p.Lys1083Ter
NM_022089.4:c.3454A>T MANE Select	NP_071372.1:p.Lys1152Ter
NM_001141973.3:c.3439A>T	NP_001135445.1:p.Lys1147Ter
NM_001141974.3:c.3152A>T	NP_001135446.1:p.Gln1051Leu