Canonical Allele Identifier: CA388024332

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513284T>C (hg19) ; chr13:g.51939148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939148T>C , CM000675.2:g.51939148T>C	GRCh38
NC_000013.10:g.52513284T>C , CM000675.1:g.52513284T>C	GRCh37
NC_000013.9:g.51411285T>C	NCBI36
NG_008806.1:g.77347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1252A>G	ENSP00000489512.2:n.*1252A>G
ENST00000673864.2:c.*2346A>G	ENSP00000501045.2:n.*2346A>G
ENST00000674147.2:c.2981A>G	ENSP00000500964.2:p.Glu994Gly
ENST00000242839.10:c.3602A>G MANE Select	ENSP00000242839.5:p.Glu1201Gly
ENST00000344297.9:c.2981A>G	ENSP00000342559.5:p.Glu994Gly
ENST00000400366.6:c.3269A>G	ENSP00000383217.3:p.Glu1090Gly
ENST00000448424.7:c.3350A>G	ENSP00000416738.3:p.Glu1117Gly
ENST00000673696.1:n.843A>G
ENST00000673772.1:c.3368A>G	ENSP00000501168.1:p.Glu1123Gly
ENST00000673867.1:n.3741A>G
ENST00000673923.1:n.468A>G
ENST00000674147.1:c.2537A>G	ENSP00000500964.1:p.Glu846Gly
ENST00000242839.8:c.3602A>G	ENSP00000242839.4:p.Glu1201Gly
ENST00000344297.8:c.2981A>G	ENSP00000342559.5:p.Glu994Gly
ENST00000400366.5:c.3269A>G	ENSP00000383217.3:p.Glu1090Gly
ENST00000400370.8:c.2312A>G	ENSP00000383221.3:p.Glu771Gly
ENST00000418097.7:c.3407A>G	ENSP00000393343.2:p.Glu1136Gly
ENST00000448424.6:c.3368A>G	ENSP00000416738.2:p.Glu1123Gly
ENST00000634296.1:c.1380A>G
ENST00000634308.1:c.*703A>G	ENSP00000489234.1:n.*703A>G
ENST00000634620.1:n.4346A>G
ENST00000634810.1:n.2947A>G
ENST00000634844.1:c.3458A>G	ENSP00000489398.1:p.Glu1153Gly
NM_000053.3:c.3602A>G	NP_000044.2:p.Glu1201Gly
NM_001005918.2:c.2981A>G	NP_001005918.1:p.Glu994Gly
NM_001243182.1:c.3269A>G	NP_001230111.1:p.Glu1090Gly
XM_005266423.2:c.3506A>G	XP_005266480.1:p.Glu1169Gly
XM_005266424.3:c.3506A>G	XP_005266481.1:p.Glu1169Gly
XM_005266427.2:c.3368A>G	XP_005266484.1:p.Glu1123Gly
XM_005266428.1:c.3350A>G	XP_005266485.1:p.Glu1117Gly
XM_005266430.3:c.3602A>G	XP_005266487.1:p.Glu1201Gly
XM_005266431.2:c.3566A>G	XP_005266488.1:p.Glu1189Gly
XM_005266432.2:c.3116A>G	XP_005266489.1:p.Glu1039Gly
XM_006719837.2:c.3506A>G	XP_006719900.1:p.Glu1169Gly
XM_006719838.1:c.1418A>G	XP_006719901.1:p.Glu473Gly
XM_006719839.1:c.1235A>G	XP_006719902.1:p.Glu412Gly
XM_011535117.1:c.3506A>G	XP_011533419.1:p.Glu1169Gly
XM_011535118.1:c.3467A>G	XP_011533420.1:p.Glu1156Gly
XM_011535119.1:c.3419A>G	XP_011533421.1:p.Glu1140Gly
XM_011535120.1:c.3188A>G	XP_011533422.1:p.Glu1063Gly
XM_011535121.1:c.3089A>G	XP_011533423.1:p.Glu1030Gly
XM_011535122.1:c.2270A>G	XP_011533424.1:p.Glu757Gly
XR_941601.1:n.3821A>G
XR_941602.1:n.3821A>G
XR_941603.1:n.3821A>G
XR_941604.1:n.3821A>G
NM_001330578.1:c.3368A>G	NP_001317507.1:p.Glu1123Gly
NM_001330579.1:c.3350A>G	NP_001317508.1:p.Glu1117Gly
XM_005266424.4:c.3506A>G	XP_005266481.1:p.Glu1169Gly
XM_005266430.4:c.3602A>G	XP_005266487.1:p.Glu1201Gly
XM_005266431.4:c.3566A>G	XP_005266488.1:p.Glu1189Gly
XM_006719837.3:c.3506A>G	XP_006719900.1:p.Glu1169Gly
XM_011535117.3:c.3506A>G	XP_011533419.1:p.Glu1169Gly
XM_017020627.1:c.3506A>G	XP_016876116.1:p.Glu1169Gly
NM_000053.4:c.3602A>G MANE Select	NP_000044.2:p.Glu1201Gly
NM_001005918.3:c.2981A>G	NP_001005918.1:p.Glu994Gly
NM_001330579.2:c.3350A>G	NP_001317508.1:p.Glu1117Gly
NM_001243182.2:c.3269A>G	NP_001230111.1:p.Glu1090Gly
NM_001330578.2:c.3368A>G	NP_001317507.1:p.Glu1123Gly