Canonical Allele Identifier: CA6988842

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 881813
• ClinVar RCV Id: RCV002436707
• dbSNP Id: rs199581971
• ExAC: 13:52520483 G / A
• gnomAD v2: 13-52520483-G-A
• gnomAD v3: 13-51946347-G-A
• gnomAD v4: 13-51946347-G-A
• MyVariant Identifiers: chr13:g.52520483G>A (hg19) ; chr13:g.51946347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946347G>A , CM000675.2:g.51946347G>A	GRCh38
NC_000013.10:g.52520483G>A , CM000675.1:g.52520483G>A	GRCh37
NC_000013.9:g.51418484G>A	NCBI36
NG_008806.1:g.70148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*830C>T	ENSP00000489512.2:n.*830C>T
ENST00000673864.2:c.*1741C>T	ENSP00000501045.2:n.*1741C>T
ENST00000674147.2:c.2376C>T	ENSP00000500964.2:p.Thr792=
ENST00000242839.10:c.2997C>T MANE Select	ENSP00000242839.5:p.Thr999=
ENST00000344297.9:c.2376C>T	ENSP00000342559.5:p.Thr792=
ENST00000400366.6:c.2664C>T	ENSP00000383217.3:p.Thr888=
ENST00000448424.7:c.2745C>T	ENSP00000416738.3:p.Thr915=
ENST00000673772.1:c.2763C>T	ENSP00000501168.1:p.Thr921=
ENST00000673867.1:n.1144C>T
ENST00000674126.1:n.3360C>T
ENST00000674147.1:c.1932C>T	ENSP00000500964.1:p.Thr644=
ENST00000242839.8:c.2997C>T	ENSP00000242839.4:p.Thr999=
ENST00000344297.8:c.2376C>T	ENSP00000342559.5:p.Thr792=
ENST00000400366.5:c.2664C>T	ENSP00000383217.3:p.Thr888=
ENST00000400370.8:c.1707C>T	ENSP00000383221.3:p.Thr569=
ENST00000418097.7:c.2866-2056C>T	ENSP00000393343.2:n.2866-2056C>T
ENST00000448424.6:c.2763C>T	ENSP00000416738.2:p.Thr921=
ENST00000466629.1:n.217C>T
ENST00000634296.1:c.958C>T
ENST00000634308.1:c.*98C>T	ENSP00000489234.1:n.*98C>T
ENST00000634620.1:n.3741C>T
ENST00000634810.1:n.2342C>T
ENST00000634844.1:c.2853C>T	ENSP00000489398.1:p.Thr951=
ENST00000635406.1:n.343C>T
NM_000053.3:c.2997C>T	NP_000044.2:p.Thr999=
NM_001005918.2:c.2376C>T	NP_001005918.1:p.Thr792=
NM_001243182.1:c.2664C>T	NP_001230111.1:p.Thr888=
XM_005266423.2:c.2901C>T	XP_005266480.1:p.Thr967=
XM_005266424.3:c.2901C>T	XP_005266481.1:p.Thr967=
XM_005266427.2:c.2763C>T	XP_005266484.1:p.Thr921=
XM_005266428.1:c.2745C>T	XP_005266485.1:p.Thr915=
XM_005266430.3:c.2997C>T	XP_005266487.1:p.Thr999=
XM_005266431.2:c.2961C>T	XP_005266488.1:p.Thr987=
XM_005266432.2:c.2511C>T	XP_005266489.1:p.Thr837=
XM_006719837.2:c.2901C>T	XP_006719900.1:p.Thr967=
XM_006719838.1:c.813C>T	XP_006719901.1:p.Thr271=
XM_006719839.1:c.813C>T	XP_006719902.1:p.Thr271=
XM_011535117.1:c.2901C>T	XP_011533419.1:p.Thr967=
XM_011535118.1:c.2862C>T	XP_011533420.1:p.Thr954=
XM_011535119.1:c.2997C>T	XP_011533421.1:p.Thr999=
XM_011535120.1:c.2583C>T	XP_011533422.1:p.Thr861=
XM_011535121.1:c.2730+3660C>T	XP_011533423.1:n.2730+3660C>T
XM_011535122.1:c.1665C>T	XP_011533424.1:p.Thr555=
XR_941601.1:n.3216C>T
XR_941602.1:n.3216C>T
XR_941603.1:n.3216C>T
XR_941604.1:n.3216C>T
NM_001330578.1:c.2763C>T	NP_001317507.1:p.Thr921=
NM_001330579.1:c.2745C>T	NP_001317508.1:p.Thr915=
XM_005266424.4:c.2901C>T	XP_005266481.1:p.Thr967=
XM_005266430.4:c.2997C>T	XP_005266487.1:p.Thr999=
XM_005266431.4:c.2961C>T	XP_005266488.1:p.Thr987=
XM_006719837.3:c.2901C>T	XP_006719900.1:p.Thr967=
XM_011535117.3:c.2901C>T	XP_011533419.1:p.Thr967=
XM_017020627.1:c.2901C>T	XP_016876116.1:p.Thr967=
NM_000053.4:c.2997C>T MANE Select	NP_000044.2:p.Thr999=
NM_001005918.3:c.2376C>T	NP_001005918.1:p.Thr792=
NM_001330579.2:c.2745C>T	NP_001317508.1:p.Thr915=
NM_001243182.2:c.2664C>T	NP_001230111.1:p.Thr888=
NM_001330578.2:c.2763C>T	NP_001317507.1:p.Thr921=