Canonical Allele Identifier: CA6988874

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2184377
• ClinVar RCV Id: RCV002615778
• dbSNP Id: rs368180043
• ExAC: 13:52520605 T / C
• gnomAD v2: 13-52520605-T-C
• gnomAD v4: 13-51946469-T-C
• MyVariant Identifiers: chr13:g.52520605T>C (hg19) ; chr13:g.51946469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946469T>C , CM000675.2:g.51946469T>C	GRCh38
NC_000013.10:g.52520605T>C , CM000675.1:g.52520605T>C	GRCh37
NC_000013.9:g.51418606T>C	NCBI36
NG_008806.1:g.70026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*708A>G	ENSP00000489512.2:n.*708A>G
ENST00000673864.2:c.*1619A>G	ENSP00000501045.2:n.*1619A>G
ENST00000674147.2:c.2254A>G	ENSP00000500964.2:p.Lys752Glu
ENST00000242839.10:c.2875A>G MANE Select	ENSP00000242839.5:p.Lys959Glu
ENST00000344297.9:c.2254A>G	ENSP00000342559.5:p.Lys752Glu
ENST00000400366.6:c.2542A>G	ENSP00000383217.3:p.Lys848Glu
ENST00000448424.7:c.2623A>G	ENSP00000416738.3:p.Lys875Glu
ENST00000673772.1:c.2641A>G	ENSP00000501168.1:p.Lys881Glu
ENST00000673867.1:n.1022A>G
ENST00000674126.1:n.3238A>G
ENST00000674147.1:c.1810A>G	ENSP00000500964.1:p.Lys604Glu
ENST00000242839.8:c.2875A>G	ENSP00000242839.4:p.Lys959Glu
ENST00000344297.8:c.2254A>G	ENSP00000342559.5:p.Lys752Glu
ENST00000400366.5:c.2542A>G	ENSP00000383217.3:p.Lys848Glu
ENST00000400370.8:c.1585A>G	ENSP00000383221.3:p.Lys529Glu
ENST00000418097.7:c.2866-2178A>G	ENSP00000393343.2:n.2866-2178A>G
ENST00000448424.6:c.2641A>G	ENSP00000416738.2:p.Lys881Glu
ENST00000466629.1:n.95A>G
ENST00000634296.1:c.836A>G
ENST00000634308.1:c.2661A>G	ENSP00000489234.1:p.Thr887=
ENST00000634620.1:n.3619A>G
ENST00000634810.1:n.2220A>G
ENST00000634844.1:c.2731A>G	ENSP00000489398.1:p.Lys911Glu
ENST00000635406.1:n.221A>G
NM_000053.3:c.2875A>G	NP_000044.2:p.Lys959Glu
NM_001005918.2:c.2254A>G	NP_001005918.1:p.Lys752Glu
NM_001243182.1:c.2542A>G	NP_001230111.1:p.Lys848Glu
XM_005266423.2:c.2779A>G	XP_005266480.1:p.Lys927Glu
XM_005266424.3:c.2779A>G	XP_005266481.1:p.Lys927Glu
XM_005266427.2:c.2641A>G	XP_005266484.1:p.Lys881Glu
XM_005266428.1:c.2623A>G	XP_005266485.1:p.Lys875Glu
XM_005266430.3:c.2875A>G	XP_005266487.1:p.Lys959Glu
XM_005266431.2:c.2839A>G	XP_005266488.1:p.Lys947Glu
XM_005266432.2:c.2389A>G	XP_005266489.1:p.Lys797Glu
XM_006719837.2:c.2779A>G	XP_006719900.1:p.Lys927Glu
XM_006719838.1:c.691A>G	XP_006719901.1:p.Lys231Glu
XM_006719839.1:c.691A>G	XP_006719902.1:p.Lys231Glu
XM_011535117.1:c.2779A>G	XP_011533419.1:p.Lys927Glu
XM_011535118.1:c.2740A>G	XP_011533420.1:p.Lys914Glu
XM_011535119.1:c.2875A>G	XP_011533421.1:p.Lys959Glu
XM_011535120.1:c.2461A>G	XP_011533422.1:p.Lys821Glu
XM_011535121.1:c.2730+3538A>G	XP_011533423.1:n.2730+3538A>G
XM_011535122.1:c.1543A>G	XP_011533424.1:p.Lys515Glu
XR_941601.1:n.3094A>G
XR_941602.1:n.3094A>G
XR_941603.1:n.3094A>G
XR_941604.1:n.3094A>G
NM_001330578.1:c.2641A>G	NP_001317507.1:p.Lys881Glu
NM_001330579.1:c.2623A>G	NP_001317508.1:p.Lys875Glu
XM_005266424.4:c.2779A>G	XP_005266481.1:p.Lys927Glu
XM_005266430.4:c.2875A>G	XP_005266487.1:p.Lys959Glu
XM_005266431.4:c.2839A>G	XP_005266488.1:p.Lys947Glu
XM_006719837.3:c.2779A>G	XP_006719900.1:p.Lys927Glu
XM_011535117.3:c.2779A>G	XP_011533419.1:p.Lys927Glu
XM_017020627.1:c.2779A>G	XP_016876116.1:p.Lys927Glu
NM_000053.4:c.2875A>G MANE Select	NP_000044.2:p.Lys959Glu
NM_001005918.3:c.2254A>G	NP_001005918.1:p.Lys752Glu
NM_001330579.2:c.2623A>G	NP_001317508.1:p.Lys875Glu
NM_001243182.2:c.2542A>G	NP_001230111.1:p.Lys848Glu
NM_001330578.2:c.2641A>G	NP_001317507.1:p.Lys881Glu