Canonical Allele Identifier: CA388024492

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513298G>C (hg19) ; chr13:g.51939162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939162G>C , CM000675.2:g.51939162G>C	GRCh38
NC_000013.10:g.52513298G>C , CM000675.1:g.52513298G>C	GRCh37
NC_000013.9:g.51411299G>C	NCBI36
NG_008806.1:g.77333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1238C>G	ENSP00000489512.2:n.*1238C>G
ENST00000673864.2:c.*2332C>G	ENSP00000501045.2:n.*2332C>G
ENST00000674147.2:c.2967C>G	ENSP00000500964.2:p.Asp989Glu
ENST00000242839.10:c.3588C>G MANE Select	ENSP00000242839.5:p.Asp1196Glu
ENST00000344297.9:c.2967C>G	ENSP00000342559.5:p.Asp989Glu
ENST00000400366.6:c.3255C>G	ENSP00000383217.3:p.Asp1085Glu
ENST00000448424.7:c.3336C>G	ENSP00000416738.3:p.Asp1112Glu
ENST00000673696.1:n.829C>G
ENST00000673772.1:c.3354C>G	ENSP00000501168.1:p.Asp1118Glu
ENST00000673867.1:n.3727C>G
ENST00000673923.1:n.454C>G
ENST00000674147.1:c.2523C>G	ENSP00000500964.1:p.Asp841Glu
ENST00000242839.8:c.3588C>G	ENSP00000242839.4:p.Asp1196Glu
ENST00000344297.8:c.2967C>G	ENSP00000342559.5:p.Asp989Glu
ENST00000400366.5:c.3255C>G	ENSP00000383217.3:p.Asp1085Glu
ENST00000400370.8:c.2298C>G	ENSP00000383221.3:p.Asp766Glu
ENST00000418097.7:c.3393C>G	ENSP00000393343.2:p.Asp1131Glu
ENST00000448424.6:c.3354C>G	ENSP00000416738.2:p.Asp1118Glu
ENST00000634296.1:c.1366C>G
ENST00000634308.1:c.*689C>G	ENSP00000489234.1:n.*689C>G
ENST00000634620.1:n.4332C>G
ENST00000634810.1:n.2933C>G
ENST00000634844.1:c.3444C>G	ENSP00000489398.1:p.Asp1148Glu
NM_000053.3:c.3588C>G	NP_000044.2:p.Asp1196Glu
NM_001005918.2:c.2967C>G	NP_001005918.1:p.Asp989Glu
NM_001243182.1:c.3255C>G	NP_001230111.1:p.Asp1085Glu
XM_005266423.2:c.3492C>G	XP_005266480.1:p.Asp1164Glu
XM_005266424.3:c.3492C>G	XP_005266481.1:p.Asp1164Glu
XM_005266427.2:c.3354C>G	XP_005266484.1:p.Asp1118Glu
XM_005266428.1:c.3336C>G	XP_005266485.1:p.Asp1112Glu
XM_005266430.3:c.3588C>G	XP_005266487.1:p.Asp1196Glu
XM_005266431.2:c.3552C>G	XP_005266488.1:p.Asp1184Glu
XM_005266432.2:c.3102C>G	XP_005266489.1:p.Asp1034Glu
XM_006719837.2:c.3492C>G	XP_006719900.1:p.Asp1164Glu
XM_006719838.1:c.1404C>G	XP_006719901.1:p.Asp468Glu
XM_006719839.1:c.1221C>G	XP_006719902.1:p.Asp407Glu
XM_011535117.1:c.3492C>G	XP_011533419.1:p.Asp1164Glu
XM_011535118.1:c.3453C>G	XP_011533420.1:p.Asp1151Glu
XM_011535119.1:c.3405C>G	XP_011533421.1:p.Asp1135Glu
XM_011535120.1:c.3174C>G	XP_011533422.1:p.Asp1058Glu
XM_011535121.1:c.3075C>G	XP_011533423.1:p.Asp1025Glu
XM_011535122.1:c.2256C>G	XP_011533424.1:p.Asp752Glu
XR_941601.1:n.3807C>G
XR_941602.1:n.3807C>G
XR_941603.1:n.3807C>G
XR_941604.1:n.3807C>G
NM_001330578.1:c.3354C>G	NP_001317507.1:p.Asp1118Glu
NM_001330579.1:c.3336C>G	NP_001317508.1:p.Asp1112Glu
XM_005266424.4:c.3492C>G	XP_005266481.1:p.Asp1164Glu
XM_005266430.4:c.3588C>G	XP_005266487.1:p.Asp1196Glu
XM_005266431.4:c.3552C>G	XP_005266488.1:p.Asp1184Glu
XM_006719837.3:c.3492C>G	XP_006719900.1:p.Asp1164Glu
XM_011535117.3:c.3492C>G	XP_011533419.1:p.Asp1164Glu
XM_017020627.1:c.3492C>G	XP_016876116.1:p.Asp1164Glu
NM_000053.4:c.3588C>G MANE Select	NP_000044.2:p.Asp1196Glu
NM_001005918.3:c.2967C>G	NP_001005918.1:p.Asp989Glu
NM_001330579.2:c.3336C>G	NP_001317508.1:p.Asp1112Glu
NM_001243182.2:c.3255C>G	NP_001230111.1:p.Asp1085Glu
NM_001330578.2:c.3354C>G	NP_001317507.1:p.Asp1118Glu