Canonical Allele Identifier: CA6988664
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2169725
ClinVar RCV Id: RCV003095322
dbSNP Id: rs756751716

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941082G>A , CM000675.2:g.51941082G>A GRCh38
NC_000013.10:g.52515218G>A , CM000675.1:g.52515218G>A GRCh37
NC_000013.9:g.51413219G>A NCBI36
NG_008806.1:g.75413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1205C>T ENSP00000489512.2:n.*1205C>T
ENST00000673864.2:c.*2299C>T ENSP00000501045.2:n.*2299C>T
ENST00000674147.2:c.2934C>T ENSP00000500964.2:p.Asp978=
ENST00000242839.10:c.3555C>T MANE Select ENSP00000242839.5:p.Asp1185=
ENST00000344297.9:c.2934C>T ENSP00000342559.5:p.Asp978=
ENST00000400366.6:c.3222C>T ENSP00000383217.3:p.Asp1074=
ENST00000448424.7:c.3303C>T ENSP00000416738.3:p.Asp1101=
ENST00000673772.1:c.3321C>T ENSP00000501168.1:p.Asp1107=
ENST00000673867.1:n.3694C>T
ENST00000674126.1:n.3918C>T
ENST00000674147.1:c.2490C>T ENSP00000500964.1:p.Asp830=
ENST00000242839.8:c.3555C>T ENSP00000242839.4:p.Asp1185=
ENST00000344297.8:c.2934C>T ENSP00000342559.5:p.Asp978=
ENST00000400366.5:c.3222C>T ENSP00000383217.3:p.Asp1074=
ENST00000400370.8:c.2265C>T ENSP00000383221.3:p.Asp755=
ENST00000418097.7:c.3360C>T ENSP00000393343.2:p.Asp1120=
ENST00000448424.6:c.3321C>T ENSP00000416738.2:p.Asp1107=
ENST00000634296.1:c.1333C>T
ENST00000634308.1:c.*656C>T ENSP00000489234.1:n.*656C>T
ENST00000634620.1:n.4299C>T
ENST00000634810.1:n.2900C>T
ENST00000634844.1:c.3411C>T ENSP00000489398.1:p.Asp1137=
NM_000053.3:c.3555C>T NP_000044.2:p.Asp1185=
NM_001005918.2:c.2934C>T NP_001005918.1:p.Asp978=
NM_001243182.1:c.3222C>T NP_001230111.1:p.Asp1074=
XM_005266423.2:c.3459C>T XP_005266480.1:p.Asp1153=
XM_005266424.3:c.3459C>T XP_005266481.1:p.Asp1153=
XM_005266427.2:c.3321C>T XP_005266484.1:p.Asp1107=
XM_005266428.1:c.3303C>T XP_005266485.1:p.Asp1101=
XM_005266430.3:c.3555C>T XP_005266487.1:p.Asp1185=
XM_005266431.2:c.3519C>T XP_005266488.1:p.Asp1173=
XM_005266432.2:c.3069C>T XP_005266489.1:p.Asp1023=
XM_006719837.2:c.3459C>T XP_006719900.1:p.Asp1153=
XM_006719838.1:c.1371C>T XP_006719901.1:p.Asp457=
XM_006719839.1:c.1188C>T XP_006719902.1:p.Asp396=
XM_011535117.1:c.3459C>T XP_011533419.1:p.Asp1153=
XM_011535118.1:c.3420C>T XP_011533420.1:p.Asp1140=
XM_011535119.1:c.3372C>T XP_011533421.1:p.Asp1124=
XM_011535120.1:c.3141C>T XP_011533422.1:p.Asp1047=
XM_011535121.1:c.3042C>T XP_011533423.1:p.Asp1014=
XM_011535122.1:c.2223C>T XP_011533424.1:p.Asp741=
XR_941601.1:n.3774C>T
XR_941602.1:n.3774C>T
XR_941603.1:n.3774C>T
XR_941604.1:n.3774C>T
NM_001330578.1:c.3321C>T NP_001317507.1:p.Asp1107=
NM_001330579.1:c.3303C>T NP_001317508.1:p.Asp1101=
XM_005266424.4:c.3459C>T XP_005266481.1:p.Asp1153=
XM_005266430.4:c.3555C>T XP_005266487.1:p.Asp1185=
XM_005266431.4:c.3519C>T XP_005266488.1:p.Asp1173=
XM_006719837.3:c.3459C>T XP_006719900.1:p.Asp1153=
XM_011535117.3:c.3459C>T XP_011533419.1:p.Asp1153=
XM_017020627.1:c.3459C>T XP_016876116.1:p.Asp1153=
NM_000053.4:c.3555C>T MANE Select NP_000044.2:p.Asp1185=
NM_001005918.3:c.2934C>T NP_001005918.1:p.Asp978=
NM_001330579.2:c.3303C>T NP_001317508.1:p.Asp1101=
NM_001243182.2:c.3222C>T NP_001230111.1:p.Asp1074=
NM_001330578.2:c.3321C>T NP_001317507.1:p.Asp1107=