Canonical Allele Identifier: CA388029904

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944149T>C , CM000675.2:g.51944149T>C	GRCh38
NC_000013.10:g.52518285T>C , CM000675.1:g.52518285T>C	GRCh37
NC_000013.9:g.51416286T>C	NCBI36
NG_008806.1:g.72346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1595A>G	ENSP00000489512.2:n.*894-1595A>G
ENST00000673864.2:c.*1947A>G	ENSP00000501045.2:n.*1947A>G
ENST00000674147.2:c.2582A>G	ENSP00000500964.2:p.Glu861Gly
ENST00000242839.10:c.3203A>G MANE Select	ENSP00000242839.5:p.Glu1068Gly
ENST00000344297.9:c.2582A>G	ENSP00000342559.5:p.Glu861Gly
ENST00000400366.6:c.2870A>G	ENSP00000383217.3:p.Glu957Gly
ENST00000448424.7:c.2951A>G	ENSP00000416738.3:p.Glu984Gly
ENST00000673772.1:c.2969A>G	ENSP00000501168.1:p.Glu990Gly
ENST00000673867.1:n.3342A>G
ENST00000674126.1:n.3566A>G
ENST00000674147.1:c.2138A>G	ENSP00000500964.1:p.Glu713Gly
ENST00000242839.8:c.3203A>G	ENSP00000242839.4:p.Glu1068Gly
ENST00000344297.8:c.2582A>G	ENSP00000342559.5:p.Glu861Gly
ENST00000400366.5:c.2870A>G	ENSP00000383217.3:p.Glu957Gly
ENST00000400370.8:c.1913A>G	ENSP00000383221.3:p.Glu638Gly
ENST00000418097.7:c.3008A>G	ENSP00000393343.2:p.Glu1003Gly
ENST00000448424.6:c.2969A>G	ENSP00000416738.2:p.Glu990Gly
ENST00000466629.1:n.423A>G
ENST00000634296.1:c.1022-1595A>G
ENST00000634308.1:c.*304A>G	ENSP00000489234.1:n.*304A>G
ENST00000634620.1:n.3947A>G
ENST00000634810.1:n.2548A>G
ENST00000634844.1:c.3059A>G	ENSP00000489398.1:p.Glu1020Gly
NM_000053.3:c.3203A>G	NP_000044.2:p.Glu1068Gly
NM_001005918.2:c.2582A>G	NP_001005918.1:p.Glu861Gly
NM_001243182.1:c.2870A>G	NP_001230111.1:p.Glu957Gly
XM_005266423.2:c.3107A>G	XP_005266480.1:p.Glu1036Gly
XM_005266424.3:c.3107A>G	XP_005266481.1:p.Glu1036Gly
XM_005266427.2:c.2969A>G	XP_005266484.1:p.Glu990Gly
XM_005266428.1:c.2951A>G	XP_005266485.1:p.Glu984Gly
XM_005266430.3:c.3203A>G	XP_005266487.1:p.Glu1068Gly
XM_005266431.2:c.3167A>G	XP_005266488.1:p.Glu1056Gly
XM_005266432.2:c.2717A>G	XP_005266489.1:p.Glu906Gly
XM_006719837.2:c.3107A>G	XP_006719900.1:p.Glu1036Gly
XM_006719838.1:c.1019A>G	XP_006719901.1:p.Glu340Gly
XM_006719839.1:c.877-1595A>G	XP_006719902.1:n.877-1595A>G
XM_011535117.1:c.3107A>G	XP_011533419.1:p.Glu1036Gly
XM_011535118.1:c.3068A>G	XP_011533420.1:p.Glu1023Gly
XM_011535119.1:c.3061-1595A>G	XP_011533421.1:n.3061-1595A>G
XM_011535120.1:c.2789A>G	XP_011533422.1:p.Glu930Gly
XM_011535121.1:c.2731-1595A>G	XP_011533423.1:n.2731-1595A>G
XM_011535122.1:c.1871A>G	XP_011533424.1:p.Glu624Gly
XR_941601.1:n.3422A>G
XR_941602.1:n.3422A>G
XR_941603.1:n.3422A>G
XR_941604.1:n.3422A>G
NM_001330578.1:c.2969A>G	NP_001317507.1:p.Glu990Gly
NM_001330579.1:c.2951A>G	NP_001317508.1:p.Glu984Gly
XM_005266424.4:c.3107A>G	XP_005266481.1:p.Glu1036Gly
XM_005266430.4:c.3203A>G	XP_005266487.1:p.Glu1068Gly
XM_005266431.4:c.3167A>G	XP_005266488.1:p.Glu1056Gly
XM_006719837.3:c.3107A>G	XP_006719900.1:p.Glu1036Gly
XM_011535117.3:c.3107A>G	XP_011533419.1:p.Glu1036Gly
XM_017020627.1:c.3107A>G	XP_016876116.1:p.Glu1036Gly
NM_000053.4:c.3203A>G MANE Select	NP_000044.2:p.Glu1068Gly
NM_001005918.3:c.2582A>G	NP_001005918.1:p.Glu861Gly
NM_001330579.2:c.2951A>G	NP_001317508.1:p.Glu984Gly
NM_001243182.2:c.2870A>G	NP_001230111.1:p.Glu957Gly
NM_001330578.2:c.2969A>G	NP_001317507.1:p.Glu990Gly