Canonical Allele Identifier: CA6988668

Gene: ATP7B

Linked Data

• dbSNP Id: rs1555285304
• ExAC: 13:52515263 T / C
• gnomAD v2: 13-52515263-T-C
• MyVariant Identifiers: chr13:g.52515263T>C (hg19) ; chr13:g.52515263_52515264delinsCG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941127T>C , CM000675.2:g.51941127T>C	GRCh38
NC_000013.10:g.52515263T>C , CM000675.1:g.52515263T>C	GRCh37
NC_000013.9:g.51413264T>C	NCBI36
NG_008806.1:g.75368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1160A>G	ENSP00000489512.2:n.*1160A>G
ENST00000673864.2:c.*2254A>G	ENSP00000501045.2:n.*2254A>G
ENST00000674147.2:c.2889A>G	ENSP00000500964.2:p.Thr963=
ENST00000242839.10:c.3510A>G MANE Select	ENSP00000242839.5:p.Thr1170=
ENST00000344297.9:c.2889A>G	ENSP00000342559.5:p.Thr963=
ENST00000400366.6:c.3177A>G	ENSP00000383217.3:p.Thr1059=
ENST00000448424.7:c.3258A>G	ENSP00000416738.3:p.Thr1086=
ENST00000673772.1:c.3276A>G	ENSP00000501168.1:p.Thr1092=
ENST00000673867.1:n.3649A>G
ENST00000674126.1:n.3873A>G
ENST00000674147.1:c.2445A>G	ENSP00000500964.1:p.Thr815=
ENST00000242839.8:c.3510A>G	ENSP00000242839.4:p.Thr1170=
ENST00000344297.8:c.2889A>G	ENSP00000342559.5:p.Thr963=
ENST00000400366.5:c.3177A>G	ENSP00000383217.3:p.Thr1059=
ENST00000400370.8:c.2220A>G	ENSP00000383221.3:p.Thr740=
ENST00000418097.7:c.3315A>G	ENSP00000393343.2:p.Thr1105=
ENST00000448424.6:c.3276A>G	ENSP00000416738.2:p.Thr1092=
ENST00000634296.1:c.1288A>G
ENST00000634308.1:c.*611A>G	ENSP00000489234.1:n.*611A>G
ENST00000634620.1:n.4254A>G
ENST00000634810.1:n.2855A>G
ENST00000634844.1:c.3366A>G	ENSP00000489398.1:p.Thr1122=
NM_000053.3:c.3510A>G	NP_000044.2:p.Thr1170=
NM_001005918.2:c.2889A>G	NP_001005918.1:p.Thr963=
NM_001243182.1:c.3177A>G	NP_001230111.1:p.Thr1059=
XM_005266423.2:c.3414A>G	XP_005266480.1:p.Thr1138=
XM_005266424.3:c.3414A>G	XP_005266481.1:p.Thr1138=
XM_005266427.2:c.3276A>G	XP_005266484.1:p.Thr1092=
XM_005266428.1:c.3258A>G	XP_005266485.1:p.Thr1086=
XM_005266430.3:c.3510A>G	XP_005266487.1:p.Thr1170=
XM_005266431.2:c.3474A>G	XP_005266488.1:p.Thr1158=
XM_005266432.2:c.3024A>G	XP_005266489.1:p.Thr1008=
XM_006719837.2:c.3414A>G	XP_006719900.1:p.Thr1138=
XM_006719838.1:c.1326A>G	XP_006719901.1:p.Thr442=
XM_006719839.1:c.1143A>G	XP_006719902.1:p.Thr381=
XM_011535117.1:c.3414A>G	XP_011533419.1:p.Thr1138=
XM_011535118.1:c.3375A>G	XP_011533420.1:p.Thr1125=
XM_011535119.1:c.3327A>G	XP_011533421.1:p.Thr1109=
XM_011535120.1:c.3096A>G	XP_011533422.1:p.Thr1032=
XM_011535121.1:c.2997A>G	XP_011533423.1:p.Thr999=
XM_011535122.1:c.2178A>G	XP_011533424.1:p.Thr726=
XR_941601.1:n.3729A>G
XR_941602.1:n.3729A>G
XR_941603.1:n.3729A>G
XR_941604.1:n.3729A>G
NM_001330578.1:c.3276A>G	NP_001317507.1:p.Thr1092=
NM_001330579.1:c.3258A>G	NP_001317508.1:p.Thr1086=
XM_005266424.4:c.3414A>G	XP_005266481.1:p.Thr1138=
XM_005266430.4:c.3510A>G	XP_005266487.1:p.Thr1170=
XM_005266431.4:c.3474A>G	XP_005266488.1:p.Thr1158=
XM_006719837.3:c.3414A>G	XP_006719900.1:p.Thr1138=
XM_011535117.3:c.3414A>G	XP_011533419.1:p.Thr1138=
XM_017020627.1:c.3414A>G	XP_016876116.1:p.Thr1138=
NM_000053.4:c.3510A>G MANE Select	NP_000044.2:p.Thr1170=
NM_001005918.3:c.2889A>G	NP_001005918.1:p.Thr963=
NM_001330579.2:c.3258A>G	NP_001317508.1:p.Thr1086=
NM_001243182.2:c.3177A>G	NP_001230111.1:p.Thr1059=
NM_001330578.2:c.3276A>G	NP_001317507.1:p.Thr1092=