Canonical Allele Identifier: CA388030499

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 526658
• ClinVar RCV Id: RCV000631238
• dbSNP Id: rs1555286620
• MyVariant Identifiers: chr13:g.52518391T>C (hg19) ; chr13:g.51944255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944255T>C , CM000675.2:g.51944255T>C	GRCh38
NC_000013.10:g.52518391T>C , CM000675.1:g.52518391T>C	GRCh37
NC_000013.9:g.51416392T>C	NCBI36
NG_008806.1:g.72240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1701A>G	ENSP00000489512.2:n.*894-1701A>G
ENST00000673864.2:c.*1841A>G	ENSP00000501045.2:n.*1841A>G
ENST00000674147.2:c.2476A>G	ENSP00000500964.2:p.Thr826Ala
ENST00000242839.10:c.3097A>G MANE Select	ENSP00000242839.5:p.Thr1033Ala
ENST00000344297.9:c.2476A>G	ENSP00000342559.5:p.Thr826Ala
ENST00000400366.6:c.2764A>G	ENSP00000383217.3:p.Thr922Ala
ENST00000448424.7:c.2845A>G	ENSP00000416738.3:p.Thr949Ala
ENST00000673772.1:c.2863A>G	ENSP00000501168.1:p.Thr955Ala
ENST00000673867.1:n.3236A>G
ENST00000674126.1:n.3460A>G
ENST00000674147.1:c.2032A>G	ENSP00000500964.1:p.Thr678Ala
ENST00000242839.8:c.3097A>G	ENSP00000242839.4:p.Thr1033Ala
ENST00000344297.8:c.2476A>G	ENSP00000342559.5:p.Thr826Ala
ENST00000400366.5:c.2764A>G	ENSP00000383217.3:p.Thr922Ala
ENST00000400370.8:c.1807A>G	ENSP00000383221.3:p.Thr603Ala
ENST00000418097.7:c.2902A>G	ENSP00000393343.2:p.Thr968Ala
ENST00000448424.6:c.2863A>G	ENSP00000416738.2:p.Thr955Ala
ENST00000466629.1:n.317A>G
ENST00000634296.1:c.1022-1701A>G
ENST00000634308.1:c.*198A>G	ENSP00000489234.1:n.*198A>G
ENST00000634620.1:n.3841A>G
ENST00000634810.1:n.2442A>G
ENST00000634844.1:c.2953A>G	ENSP00000489398.1:p.Thr985Ala
ENST00000635406.1:n.443A>G
NM_000053.3:c.3097A>G	NP_000044.2:p.Thr1033Ala
NM_001005918.2:c.2476A>G	NP_001005918.1:p.Thr826Ala
NM_001243182.1:c.2764A>G	NP_001230111.1:p.Thr922Ala
XM_005266423.2:c.3001A>G	XP_005266480.1:p.Thr1001Ala
XM_005266424.3:c.3001A>G	XP_005266481.1:p.Thr1001Ala
XM_005266427.2:c.2863A>G	XP_005266484.1:p.Thr955Ala
XM_005266428.1:c.2845A>G	XP_005266485.1:p.Thr949Ala
XM_005266430.3:c.3097A>G	XP_005266487.1:p.Thr1033Ala
XM_005266431.2:c.3061A>G	XP_005266488.1:p.Thr1021Ala
XM_005266432.2:c.2611A>G	XP_005266489.1:p.Thr871Ala
XM_006719837.2:c.3001A>G	XP_006719900.1:p.Thr1001Ala
XM_006719838.1:c.913A>G	XP_006719901.1:p.Thr305Ala
XM_006719839.1:c.877-1701A>G	XP_006719902.1:n.877-1701A>G
XM_011535117.1:c.3001A>G	XP_011533419.1:p.Thr1001Ala
XM_011535118.1:c.2962A>G	XP_011533420.1:p.Thr988Ala
XM_011535119.1:c.3061-1701A>G	XP_011533421.1:n.3061-1701A>G
XM_011535120.1:c.2683A>G	XP_011533422.1:p.Thr895Ala
XM_011535121.1:c.2731-1701A>G	XP_011533423.1:n.2731-1701A>G
XM_011535122.1:c.1765A>G	XP_011533424.1:p.Thr589Ala
XR_941601.1:n.3316A>G
XR_941602.1:n.3316A>G
XR_941603.1:n.3316A>G
XR_941604.1:n.3316A>G
NM_001330578.1:c.2863A>G	NP_001317507.1:p.Thr955Ala
NM_001330579.1:c.2845A>G	NP_001317508.1:p.Thr949Ala
XM_005266424.4:c.3001A>G	XP_005266481.1:p.Thr1001Ala
XM_005266430.4:c.3097A>G	XP_005266487.1:p.Thr1033Ala
XM_005266431.4:c.3061A>G	XP_005266488.1:p.Thr1021Ala
XM_006719837.3:c.3001A>G	XP_006719900.1:p.Thr1001Ala
XM_011535117.3:c.3001A>G	XP_011533419.1:p.Thr1001Ala
XM_017020627.1:c.3001A>G	XP_016876116.1:p.Thr1001Ala
NM_000053.4:c.3097A>G MANE Select	NP_000044.2:p.Thr1033Ala
NM_001005918.3:c.2476A>G	NP_001005918.1:p.Thr826Ala
NM_001330579.2:c.2845A>G	NP_001317508.1:p.Thr949Ala
NM_001243182.2:c.2764A>G	NP_001230111.1:p.Thr922Ala
NM_001330578.2:c.2863A>G	NP_001317507.1:p.Thr955Ala