Canonical Allele Identifier: CA6988782

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 550969
• ClinVar RCV Id: RCV000665883 ; RCV001508709
• dbSNP Id: rs376910645
• ExAC: 13:52518298 C / T
• gnomAD v2: 13-52518298-C-T
• gnomAD v4: 13-51944162-C-T
• MyVariant Identifiers: chr13:g.52518298C>T (hg19) ; chr13:g.51944162C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1608G>A	ENSP00000489512.2:n.*894-1608G>A
ENST00000673864.2:c.*1934G>A	ENSP00000501045.2:n.*1934G>A
ENST00000674147.2:c.2569G>A	ENSP00000500964.2:p.Glu857Lys
ENST00000242839.10:c.3190G>A MANE Select	ENSP00000242839.5:p.Glu1064Lys
ENST00000344297.9:c.2569G>A	ENSP00000342559.5:p.Glu857Lys
ENST00000400366.6:c.2857G>A	ENSP00000383217.3:p.Glu953Lys
ENST00000448424.7:c.2938G>A	ENSP00000416738.3:p.Glu980Lys
ENST00000673772.1:c.2956G>A	ENSP00000501168.1:p.Glu986Lys
ENST00000673867.1:n.3329G>A
ENST00000674126.1:n.3553G>A
ENST00000674147.1:c.2125G>A	ENSP00000500964.1:p.Glu709Lys
ENST00000242839.8:c.3190G>A	ENSP00000242839.4:p.Glu1064Lys
ENST00000344297.8:c.2569G>A	ENSP00000342559.5:p.Glu857Lys
ENST00000400366.5:c.2857G>A	ENSP00000383217.3:p.Glu953Lys
ENST00000400370.8:c.1900G>A	ENSP00000383221.3:p.Glu634Lys
ENST00000418097.7:c.2995G>A	ENSP00000393343.2:p.Glu999Lys
ENST00000448424.6:c.2956G>A	ENSP00000416738.2:p.Glu986Lys
ENST00000466629.1:n.410G>A
ENST00000634296.1:c.1022-1608G>A
ENST00000634308.1:c.*291G>A	ENSP00000489234.1:n.*291G>A
ENST00000634620.1:n.3934G>A
ENST00000634810.1:n.2535G>A
ENST00000634844.1:c.3046G>A	ENSP00000489398.1:p.Glu1016Lys
NM_000053.3:c.3190G>A	NP_000044.2:p.Glu1064Lys
NM_001005918.2:c.2569G>A	NP_001005918.1:p.Glu857Lys
NM_001243182.1:c.2857G>A	NP_001230111.1:p.Glu953Lys
XM_005266423.2:c.3094G>A	XP_005266480.1:p.Glu1032Lys
XM_005266424.3:c.3094G>A	XP_005266481.1:p.Glu1032Lys
XM_005266427.2:c.2956G>A	XP_005266484.1:p.Glu986Lys
XM_005266428.1:c.2938G>A	XP_005266485.1:p.Glu980Lys
XM_005266430.3:c.3190G>A	XP_005266487.1:p.Glu1064Lys
XM_005266431.2:c.3154G>A	XP_005266488.1:p.Glu1052Lys
XM_005266432.2:c.2704G>A	XP_005266489.1:p.Glu902Lys
XM_006719837.2:c.3094G>A	XP_006719900.1:p.Glu1032Lys
XM_006719838.1:c.1006G>A	XP_006719901.1:p.Glu336Lys
XM_006719839.1:c.877-1608G>A	XP_006719902.1:n.877-1608G>A
XM_011535117.1:c.3094G>A	XP_011533419.1:p.Glu1032Lys
XM_011535118.1:c.3055G>A	XP_011533420.1:p.Glu1019Lys
XM_011535119.1:c.3061-1608G>A	XP_011533421.1:n.3061-1608G>A
XM_011535120.1:c.2776G>A	XP_011533422.1:p.Glu926Lys
XM_011535121.1:c.2731-1608G>A	XP_011533423.1:n.2731-1608G>A
XM_011535122.1:c.1858G>A	XP_011533424.1:p.Glu620Lys
XR_941601.1:n.3409G>A
XR_941602.1:n.3409G>A
XR_941603.1:n.3409G>A
XR_941604.1:n.3409G>A
NM_001330578.1:c.2956G>A	NP_001317507.1:p.Glu986Lys
NM_001330579.1:c.2938G>A	NP_001317508.1:p.Glu980Lys
XM_005266424.4:c.3094G>A	XP_005266481.1:p.Glu1032Lys
XM_005266430.4:c.3190G>A	XP_005266487.1:p.Glu1064Lys
XM_005266431.4:c.3154G>A	XP_005266488.1:p.Glu1052Lys
XM_006719837.3:c.3094G>A	XP_006719900.1:p.Glu1032Lys
XM_011535117.3:c.3094G>A	XP_011533419.1:p.Glu1032Lys
XM_017020627.1:c.3094G>A	XP_016876116.1:p.Glu1032Lys
NM_000053.4:c.3190G>A MANE Select	NP_000044.2:p.Glu1064Lys
NM_001005918.3:c.2569G>A	NP_001005918.1:p.Glu857Lys
NM_001330579.2:c.2938G>A	NP_001317508.1:p.Glu980Lys
NM_001243182.2:c.2857G>A	NP_001230111.1:p.Glu953Lys
NM_001330578.2:c.2956G>A	NP_001317507.1:p.Glu986Lys