Canonical Allele Identifier: CA388022657

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937675C>T , CM000675.2:g.51937675C>T	GRCh38
NC_000013.10:g.52511811C>T , CM000675.1:g.52511811C>T	GRCh37
NC_000013.9:g.51409812C>T	NCBI36
NG_008806.1:g.78820G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3704G>A MANE Select	NP_000044.2:p.Gly1235Asp
ENST00000242839.10:c.3704G>A MANE Select	ENSP00000242839.5:p.Gly1235Asp
NM_000053.3:c.3704G>A	NP_000044.2:p.Gly1235Asp
NM_001005918.2:c.3083G>A	NP_001005918.1:p.Gly1028Asp
NM_001005918.3:c.3083G>A	NP_001005918.1:p.Gly1028Asp
NM_001243182.1:c.3371G>A	NP_001230111.1:p.Gly1124Asp
NM_001243182.2:c.3371G>A	NP_001230111.1:p.Gly1124Asp
NM_001330578.1:c.3470G>A	NP_001317507.1:p.Gly1157Asp
NM_001330578.2:c.3470G>A	NP_001317507.1:p.Gly1157Asp
NM_001330579.1:c.3452G>A	NP_001317508.1:p.Gly1151Asp
NM_001330579.2:c.3452G>A	NP_001317508.1:p.Gly1151Asp
ENST00000242839.8:c.3704G>A	ENSP00000242839.4:p.Gly1235Asp
ENST00000344297.8:c.3083G>A	ENSP00000342559.5:p.Gly1028Asp
ENST00000344297.9:c.3083G>A	ENSP00000342559.5:p.Gly1028Asp
ENST00000400366.5:c.3371G>A	ENSP00000383217.3:p.Gly1124Asp
ENST00000400366.6:c.3371G>A	ENSP00000383217.3:p.Gly1124Asp
ENST00000400370.8:c.2414G>A	ENSP00000383221.3:p.Gly805Asp
ENST00000418097.7:c.3509G>A	ENSP00000393343.2:p.Gly1170Asp
ENST00000448424.6:c.3470G>A	ENSP00000416738.2:p.Gly1157Asp
ENST00000448424.7:c.3452G>A	ENSP00000416738.3:p.Gly1151Asp
ENST00000634296.1:c.1482G>A
ENST00000634296.2:c.*1354G>A	ENSP00000489512.2:n.*1354G>A
ENST00000634308.1:c.*805G>A	ENSP00000489234.1:n.*805G>A
ENST00000634620.1:n.4448G>A
ENST00000634810.1:n.3049G>A
ENST00000634844.1:c.3560G>A	ENSP00000489398.1:p.Gly1187Asp
ENST00000673696.1:n.945G>A
ENST00000673772.1:c.3470G>A	ENSP00000501168.1:p.Gly1157Asp
ENST00000673864.2:c.*2448G>A	ENSP00000501045.2:n.*2448G>A
ENST00000673867.1:n.3843G>A
ENST00000673923.1:n.570G>A
ENST00000674147.1:c.2639G>A	ENSP00000500964.1:p.Gly880Asp
ENST00000674147.2:c.3083G>A	ENSP00000500964.2:p.Gly1028Asp
XM_005266423.2:c.3608G>A	XP_005266480.1:p.Gly1203Asp
XM_005266424.3:c.3608G>A	XP_005266481.1:p.Gly1203Asp
XM_005266424.4:c.3608G>A	XP_005266481.1:p.Gly1203Asp
XM_005266427.2:c.3470G>A	XP_005266484.1:p.Gly1157Asp
XM_005266428.1:c.3452G>A	XP_005266485.1:p.Gly1151Asp
XM_005266430.3:c.3704G>A	XP_005266487.1:p.Gly1235Asp
XM_005266430.4:c.3704G>A	XP_005266487.1:p.Gly1235Asp
XM_005266431.2:c.3668G>A	XP_005266488.1:p.Gly1223Asp
XM_005266431.4:c.3668G>A	XP_005266488.1:p.Gly1223Asp
XM_005266432.2:c.3218G>A	XP_005266489.1:p.Gly1073Asp
XM_006719837.2:c.3608G>A	XP_006719900.1:p.Gly1203Asp
XM_006719837.3:c.3608G>A	XP_006719900.1:p.Gly1203Asp
XM_006719838.1:c.1520G>A	XP_006719901.1:p.Gly507Asp
XM_006719839.1:c.1337G>A	XP_006719902.1:p.Gly446Asp
XM_011535117.1:c.3608G>A	XP_011533419.1:p.Gly1203Asp
XM_011535117.3:c.3608G>A	XP_011533419.1:p.Gly1203Asp
XM_011535118.1:c.3569G>A	XP_011533420.1:p.Gly1190Asp
XM_011535119.1:c.3521G>A	XP_011533421.1:p.Gly1174Asp
XM_011535120.1:c.3290G>A	XP_011533422.1:p.Gly1097Asp
XM_011535121.1:c.3191G>A	XP_011533423.1:p.Gly1064Asp
XM_011535122.1:c.2372G>A	XP_011533424.1:p.Gly791Asp
XM_017020627.1:c.3608G>A	XP_016876116.1:p.Gly1203Asp
XR_941601.1:n.3923G>A
XR_941602.1:n.3923G>A
XR_941603.1:n.3923G>A
XR_941604.1:n.3923G>A