Canonical Allele Identifier: CA388029973

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518298C>A (hg19) ; chr13:g.51944162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944162C>A , CM000675.2:g.51944162C>A	GRCh38
NC_000013.10:g.52518298C>A , CM000675.1:g.52518298C>A	GRCh37
NC_000013.9:g.51416299C>A	NCBI36
NG_008806.1:g.72333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1608G>T	ENSP00000489512.2:n.*894-1608G>T
ENST00000673864.2:c.*1934G>T	ENSP00000501045.2:n.*1934G>T
ENST00000674147.2:c.2569G>T	ENSP00000500964.2:p.Glu857Ter
ENST00000242839.10:c.3190G>T MANE Select	ENSP00000242839.5:p.Glu1064Ter
ENST00000344297.9:c.2569G>T	ENSP00000342559.5:p.Glu857Ter
ENST00000400366.6:c.2857G>T	ENSP00000383217.3:p.Glu953Ter
ENST00000448424.7:c.2938G>T	ENSP00000416738.3:p.Glu980Ter
ENST00000673772.1:c.2956G>T	ENSP00000501168.1:p.Glu986Ter
ENST00000673867.1:n.3329G>T
ENST00000674126.1:n.3553G>T
ENST00000674147.1:c.2125G>T	ENSP00000500964.1:p.Glu709Ter
ENST00000242839.8:c.3190G>T	ENSP00000242839.4:p.Glu1064Ter
ENST00000344297.8:c.2569G>T	ENSP00000342559.5:p.Glu857Ter
ENST00000400366.5:c.2857G>T	ENSP00000383217.3:p.Glu953Ter
ENST00000400370.8:c.1900G>T	ENSP00000383221.3:p.Glu634Ter
ENST00000418097.7:c.2995G>T	ENSP00000393343.2:p.Glu999Ter
ENST00000448424.6:c.2956G>T	ENSP00000416738.2:p.Glu986Ter
ENST00000466629.1:n.410G>T
ENST00000634296.1:c.1022-1608G>T
ENST00000634308.1:c.*291G>T	ENSP00000489234.1:n.*291G>T
ENST00000634620.1:n.3934G>T
ENST00000634810.1:n.2535G>T
ENST00000634844.1:c.3046G>T	ENSP00000489398.1:p.Glu1016Ter
NM_000053.3:c.3190G>T	NP_000044.2:p.Glu1064Ter
NM_001005918.2:c.2569G>T	NP_001005918.1:p.Glu857Ter
NM_001243182.1:c.2857G>T	NP_001230111.1:p.Glu953Ter
XM_005266423.2:c.3094G>T	XP_005266480.1:p.Glu1032Ter
XM_005266424.3:c.3094G>T	XP_005266481.1:p.Glu1032Ter
XM_005266427.2:c.2956G>T	XP_005266484.1:p.Glu986Ter
XM_005266428.1:c.2938G>T	XP_005266485.1:p.Glu980Ter
XM_005266430.3:c.3190G>T	XP_005266487.1:p.Glu1064Ter
XM_005266431.2:c.3154G>T	XP_005266488.1:p.Glu1052Ter
XM_005266432.2:c.2704G>T	XP_005266489.1:p.Glu902Ter
XM_006719837.2:c.3094G>T	XP_006719900.1:p.Glu1032Ter
XM_006719838.1:c.1006G>T	XP_006719901.1:p.Glu336Ter
XM_006719839.1:c.877-1608G>T	XP_006719902.1:n.877-1608G>T
XM_011535117.1:c.3094G>T	XP_011533419.1:p.Glu1032Ter
XM_011535118.1:c.3055G>T	XP_011533420.1:p.Glu1019Ter
XM_011535119.1:c.3061-1608G>T	XP_011533421.1:n.3061-1608G>T
XM_011535120.1:c.2776G>T	XP_011533422.1:p.Glu926Ter
XM_011535121.1:c.2731-1608G>T	XP_011533423.1:n.2731-1608G>T
XM_011535122.1:c.1858G>T	XP_011533424.1:p.Glu620Ter
XR_941601.1:n.3409G>T
XR_941602.1:n.3409G>T
XR_941603.1:n.3409G>T
XR_941604.1:n.3409G>T
NM_001330578.1:c.2956G>T	NP_001317507.1:p.Glu986Ter
NM_001330579.1:c.2938G>T	NP_001317508.1:p.Glu980Ter
XM_005266424.4:c.3094G>T	XP_005266481.1:p.Glu1032Ter
XM_005266430.4:c.3190G>T	XP_005266487.1:p.Glu1064Ter
XM_005266431.4:c.3154G>T	XP_005266488.1:p.Glu1052Ter
XM_006719837.3:c.3094G>T	XP_006719900.1:p.Glu1032Ter
XM_011535117.3:c.3094G>T	XP_011533419.1:p.Glu1032Ter
XM_017020627.1:c.3094G>T	XP_016876116.1:p.Glu1032Ter
NM_000053.4:c.3190G>T MANE Select	NP_000044.2:p.Glu1064Ter
NM_001005918.3:c.2569G>T	NP_001005918.1:p.Glu857Ter
NM_001330579.2:c.2938G>T	NP_001317508.1:p.Glu980Ter
NM_001243182.2:c.2857G>T	NP_001230111.1:p.Glu953Ter
NM_001330578.2:c.2956G>T	NP_001317507.1:p.Glu986Ter