Canonical Allele Identifier: CA274321

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 189050
• ClinVar RCV Id: RCV000169445
• dbSNP Id: rs756029120
• ExAC: 13:52515256 C / T
• gnomAD v2: 13-52515256-C-T
• gnomAD v3: 13-51941120-C-T
• gnomAD v4: 13-51941120-C-T
• COSMIC: COSM3469253
• MyVariant Identifiers: chr13:g.52515256C>T (hg19) ; chr13:g.51941120C>T (hg38)
• PubMed: PMID:10544227 ; PMID:11043508 ; PMID:11405812 ; PMID:11775208 ; PMID:14986826 ; PMID:17317524 ; PMID:18034201 ; PMID:22692182 ; PMID:23275100 ; PMID:23843956

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941120C>T , CM000675.2:g.51941120C>T	GRCh38
NC_000013.10:g.52515256C>T , CM000675.1:g.52515256C>T	GRCh37
NC_000013.9:g.51413257C>T	NCBI36
NG_008806.1:g.75375G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1167G>A	ENSP00000489512.2:n.*1167G>A
ENST00000673864.2:c.*2261G>A	ENSP00000501045.2:n.*2261G>A
ENST00000674147.2:c.2896G>A	ENSP00000500964.2:p.Glu966Lys
ENST00000242839.10:c.3517G>A MANE Select	ENSP00000242839.5:p.Glu1173Lys
ENST00000344297.9:c.2896G>A	ENSP00000342559.5:p.Glu966Lys
ENST00000400366.6:c.3184G>A	ENSP00000383217.3:p.Glu1062Lys
ENST00000448424.7:c.3265G>A	ENSP00000416738.3:p.Glu1089Lys
ENST00000673772.1:c.3283G>A	ENSP00000501168.1:p.Glu1095Lys
ENST00000673867.1:n.3656G>A
ENST00000674126.1:n.3880G>A
ENST00000674147.1:c.2452G>A	ENSP00000500964.1:p.Glu818Lys
ENST00000242839.8:c.3517G>A	ENSP00000242839.4:p.Glu1173Lys
ENST00000344297.8:c.2896G>A	ENSP00000342559.5:p.Glu966Lys
ENST00000400366.5:c.3184G>A	ENSP00000383217.3:p.Glu1062Lys
ENST00000400370.8:c.2227G>A	ENSP00000383221.3:p.Glu743Lys
ENST00000418097.7:c.3322G>A	ENSP00000393343.2:p.Glu1108Lys
ENST00000448424.6:c.3283G>A	ENSP00000416738.2:p.Glu1095Lys
ENST00000634296.1:c.1295G>A
ENST00000634308.1:c.*618G>A	ENSP00000489234.1:n.*618G>A
ENST00000634620.1:n.4261G>A
ENST00000634810.1:n.2862G>A
ENST00000634844.1:c.3373G>A	ENSP00000489398.1:p.Glu1125Lys
NM_000053.3:c.3517G>A	NP_000044.2:p.Glu1173Lys
NM_001005918.2:c.2896G>A	NP_001005918.1:p.Glu966Lys
NM_001243182.1:c.3184G>A	NP_001230111.1:p.Glu1062Lys
XM_005266423.2:c.3421G>A	XP_005266480.1:p.Glu1141Lys
XM_005266424.3:c.3421G>A	XP_005266481.1:p.Glu1141Lys
XM_005266427.2:c.3283G>A	XP_005266484.1:p.Glu1095Lys
XM_005266428.1:c.3265G>A	XP_005266485.1:p.Glu1089Lys
XM_005266430.3:c.3517G>A	XP_005266487.1:p.Glu1173Lys
XM_005266431.2:c.3481G>A	XP_005266488.1:p.Glu1161Lys
XM_005266432.2:c.3031G>A	XP_005266489.1:p.Glu1011Lys
XM_006719837.2:c.3421G>A	XP_006719900.1:p.Glu1141Lys
XM_006719838.1:c.1333G>A	XP_006719901.1:p.Glu445Lys
XM_006719839.1:c.1150G>A	XP_006719902.1:p.Glu384Lys
XM_011535117.1:c.3421G>A	XP_011533419.1:p.Glu1141Lys
XM_011535118.1:c.3382G>A	XP_011533420.1:p.Glu1128Lys
XM_011535119.1:c.3334G>A	XP_011533421.1:p.Glu1112Lys
XM_011535120.1:c.3103G>A	XP_011533422.1:p.Glu1035Lys
XM_011535121.1:c.3004G>A	XP_011533423.1:p.Glu1002Lys
XM_011535122.1:c.2185G>A	XP_011533424.1:p.Glu729Lys
XR_941601.1:n.3736G>A
XR_941602.1:n.3736G>A
XR_941603.1:n.3736G>A
XR_941604.1:n.3736G>A
NM_001330578.1:c.3283G>A	NP_001317507.1:p.Glu1095Lys
NM_001330579.1:c.3265G>A	NP_001317508.1:p.Glu1089Lys
XM_005266424.4:c.3421G>A	XP_005266481.1:p.Glu1141Lys
XM_005266430.4:c.3517G>A	XP_005266487.1:p.Glu1173Lys
XM_005266431.4:c.3481G>A	XP_005266488.1:p.Glu1161Lys
XM_006719837.3:c.3421G>A	XP_006719900.1:p.Glu1141Lys
XM_011535117.3:c.3421G>A	XP_011533419.1:p.Glu1141Lys
XM_017020627.1:c.3421G>A	XP_016876116.1:p.Glu1141Lys
NM_000053.4:c.3517G>A MANE Select	NP_000044.2:p.Glu1173Lys
NM_001005918.3:c.2896G>A	NP_001005918.1:p.Glu966Lys
NM_001330579.2:c.3265G>A	NP_001317508.1:p.Glu1089Lys
NM_001243182.2:c.3184G>A	NP_001230111.1:p.Glu1062Lys
NM_001330578.2:c.3283G>A	NP_001317507.1:p.Glu1095Lys