Canonical Allele Identifier: CA388028596

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942502C>T , CM000675.2:g.51942502C>T	GRCh38
NC_000013.10:g.52516638C>T , CM000675.1:g.52516638C>T	GRCh37
NC_000013.9:g.51414639C>T	NCBI36
NG_008806.1:g.73993G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3296G>A MANE Select	NP_000044.2:p.Gly1099Asp
ENST00000242839.10:c.3296G>A MANE Select	ENSP00000242839.5:p.Gly1099Asp
NM_000053.3:c.3296G>A	NP_000044.2:p.Gly1099Asp
NM_001005918.2:c.2675G>A	NP_001005918.1:p.Gly892Asp
NM_001005918.3:c.2675G>A	NP_001005918.1:p.Gly892Asp
NM_001243182.1:c.2963G>A	NP_001230111.1:p.Gly988Asp
NM_001243182.2:c.2963G>A	NP_001230111.1:p.Gly988Asp
NM_001330578.1:c.3062G>A	NP_001317507.1:p.Gly1021Asp
NM_001330578.2:c.3062G>A	NP_001317507.1:p.Gly1021Asp
NM_001330579.1:c.3044G>A	NP_001317508.1:p.Gly1015Asp
NM_001330579.2:c.3044G>A	NP_001317508.1:p.Gly1015Asp
ENST00000242839.8:c.3296G>A	ENSP00000242839.4:p.Gly1099Asp
ENST00000344297.8:c.2675G>A	ENSP00000342559.5:p.Gly892Asp
ENST00000344297.9:c.2675G>A	ENSP00000342559.5:p.Gly892Asp
ENST00000400366.5:c.2963G>A	ENSP00000383217.3:p.Gly988Asp
ENST00000400366.6:c.2963G>A	ENSP00000383217.3:p.Gly988Asp
ENST00000400370.8:c.2006G>A	ENSP00000383221.3:p.Gly669Asp
ENST00000418097.7:c.3101G>A	ENSP00000393343.2:p.Gly1034Asp
ENST00000448424.6:c.3062G>A	ENSP00000416738.2:p.Gly1021Asp
ENST00000448424.7:c.3044G>A	ENSP00000416738.3:p.Gly1015Asp
ENST00000634296.1:c.1074G>A
ENST00000634296.2:c.*946G>A	ENSP00000489512.2:n.*946G>A
ENST00000634308.1:c.*397G>A	ENSP00000489234.1:n.*397G>A
ENST00000634620.1:n.4040G>A
ENST00000634810.1:n.2641G>A
ENST00000634844.1:c.3152G>A	ENSP00000489398.1:p.Gly1051Asp
ENST00000673772.1:c.3062G>A	ENSP00000501168.1:p.Gly1021Asp
ENST00000673864.2:c.*2040G>A	ENSP00000501045.2:n.*2040G>A
ENST00000673867.1:n.3435G>A
ENST00000674126.1:n.3659G>A
ENST00000674147.1:c.2231G>A	ENSP00000500964.1:p.Gly744Asp
ENST00000674147.2:c.2675G>A	ENSP00000500964.2:p.Gly892Asp
XM_005266423.2:c.3200G>A	XP_005266480.1:p.Gly1067Asp
XM_005266424.3:c.3200G>A	XP_005266481.1:p.Gly1067Asp
XM_005266424.4:c.3200G>A	XP_005266481.1:p.Gly1067Asp
XM_005266427.2:c.3062G>A	XP_005266484.1:p.Gly1021Asp
XM_005266428.1:c.3044G>A	XP_005266485.1:p.Gly1015Asp
XM_005266430.3:c.3296G>A	XP_005266487.1:p.Gly1099Asp
XM_005266430.4:c.3296G>A	XP_005266487.1:p.Gly1099Asp
XM_005266431.2:c.3260G>A	XP_005266488.1:p.Gly1087Asp
XM_005266431.4:c.3260G>A	XP_005266488.1:p.Gly1087Asp
XM_005266432.2:c.2810G>A	XP_005266489.1:p.Gly937Asp
XM_006719837.2:c.3200G>A	XP_006719900.1:p.Gly1067Asp
XM_006719837.3:c.3200G>A	XP_006719900.1:p.Gly1067Asp
XM_006719838.1:c.1112G>A	XP_006719901.1:p.Gly371Asp
XM_006719839.1:c.929G>A	XP_006719902.1:p.Gly310Asp
XM_011535117.1:c.3200G>A	XP_011533419.1:p.Gly1067Asp
XM_011535117.3:c.3200G>A	XP_011533419.1:p.Gly1067Asp
XM_011535118.1:c.3161G>A	XP_011533420.1:p.Gly1054Asp
XM_011535119.1:c.3113G>A	XP_011533421.1:p.Gly1038Asp
XM_011535120.1:c.2882G>A	XP_011533422.1:p.Gly961Asp
XM_011535121.1:c.2783G>A	XP_011533423.1:p.Gly928Asp
XM_011535122.1:c.1964G>A	XP_011533424.1:p.Gly655Asp
XM_017020627.1:c.3200G>A	XP_016876116.1:p.Gly1067Asp
XR_941601.1:n.3515G>A
XR_941602.1:n.3515G>A
XR_941603.1:n.3515G>A
XR_941604.1:n.3515G>A