Canonical Allele Identifier: CA16041665
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370427
ClinVar RCV Id: RCV000412086
dbSNP Id: rs1057516479

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51941108G>A , CM000675.2:g.51941108G>A GRCh38
NC_000013.10:g.52515244G>A , CM000675.1:g.52515244G>A GRCh37
NC_000013.9:g.51413245G>A NCBI36
NG_008806.1:g.75387C>T

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.3529C>T VV NP_000044.2:p.Gln1177Ter
NM_001005918.2:c.2908C>T VV NP_001005918.1:p.Gln970Ter
NM_001243182.1:c.3196C>T VV NP_001230111.1:p.Gln1066Ter
XM_005266423.2:c.3433C>T XP_005266480.1:p.Gln1145Ter
XM_005266424.3:c.3433C>T XP_005266481.1:p.Gln1145Ter
XM_005266427.2:c.3295C>T XP_005266484.1:p.Gln1099Ter
XM_005266428.1:c.3277C>T XP_005266485.1:p.Gln1093Ter
XM_005266430.3:c.3529C>T XP_005266487.1:p.Gln1177Ter
XM_005266431.2:c.3493C>T XP_005266488.1:p.Gln1165Ter
XM_005266432.2:c.3043C>T XP_005266489.1:p.Gln1015Ter
XM_006719837.2:c.3433C>T XP_006719900.1:p.Gln1145Ter
XM_006719838.1:c.1345C>T XP_006719901.1:p.Gln449Ter
XM_006719839.1:c.1162C>T XP_006719902.1:p.Gln388Ter
XM_011535117.1:c.3433C>T XP_011533419.1:p.Gln1145Ter
XM_011535118.1:c.3394C>T XP_011533420.1:p.Gln1132Ter
XM_011535119.1:c.3346C>T XP_011533421.1:p.Gln1116Ter
XM_011535120.1:c.3115C>T XP_011533422.1:p.Gln1039Ter
XM_011535121.1:c.3016C>T XP_011533423.1:p.Gln1006Ter
XM_011535122.1:c.2197C>T XP_011533424.1:p.Gln733Ter
XR_941601.1:n.3748C>T
XR_941602.1:n.3748C>T
XR_941603.1:n.3748C>T
XR_941604.1:n.3748C>T
NM_001330578.1:c.3295C>T VV NP_001317507.1:p.Gln1099Ter
NM_001330579.1:c.3277C>T VV NP_001317508.1:p.Gln1093Ter
XM_005266424.4:c.3433C>T
XM_005266430.4:c.3529C>T
XM_005266431.4:c.3493C>T
XM_006719837.3:c.3433C>T
XM_011535117.3:c.3433C>T
XM_017020627.1:c.3433C>T XP_016876116.1:p.Gln1145Ter
ENST00000242839.8:c.3529C>T ENSP00000242839.4:p.Gln1177Ter
ENST00000344297.8:c.2908C>T ENSP00000342559.5:p.Gln970Ter
ENST00000400366.5:c.3196C>T ENSP00000383217.3:p.Gln1066Ter
ENST00000400370.8:c.2239C>T ENSP00000383221.3:p.Gln747Ter
ENST00000418097.7:c.3334C>T ENSP00000393343.2:p.Gln1112Ter
ENST00000448424.6:c.3295C>T ENSP00000416738.2:p.Gln1099Ter
ENST00000634296.1:n.1307C>T
ENST00000634308.1:c.*630C>T ENSP00000489234.1:p.=
ENST00000634620.1:n.4273C>T
ENST00000634810.1:n.2874C>T
ENST00000634844.1:c.3385C>T ENSP00000489398.1:p.Gln1129Ter