Canonical Allele Identifier: CA6988751

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1654074
• ClinVar RCV Id: RCV002163689
• dbSNP Id: rs375820067
• ExAC: 13:52516673 G / C
• gnomAD v2: 13-52516673-G-C
• gnomAD v3: 13-51942537-G-C
• gnomAD v4: 13-51942537-G-C
• MyVariant Identifiers: chr13:g.52516673G>C (hg19) ; chr13:g.51942537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942537G>C , CM000675.2:g.51942537G>C	GRCh38
NC_000013.10:g.52516673G>C , CM000675.1:g.52516673G>C	GRCh37
NC_000013.9:g.51414674G>C	NCBI36
NG_008806.1:g.73958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*911C>G	ENSP00000489512.2:n.*911C>G
ENST00000673864.2:c.*2005C>G	ENSP00000501045.2:n.*2005C>G
ENST00000674147.2:c.2640C>G	ENSP00000500964.2:p.Thr880=
ENST00000242839.10:c.3261C>G MANE Select	ENSP00000242839.5:p.Thr1087=
ENST00000344297.9:c.2640C>G	ENSP00000342559.5:p.Thr880=
ENST00000400366.6:c.2928C>G	ENSP00000383217.3:p.Thr976=
ENST00000448424.7:c.3009C>G	ENSP00000416738.3:p.Thr1003=
ENST00000673772.1:c.3027C>G	ENSP00000501168.1:p.Thr1009=
ENST00000673867.1:n.3400C>G
ENST00000674126.1:n.3624C>G
ENST00000674147.1:c.2196C>G	ENSP00000500964.1:p.Thr732=
ENST00000242839.8:c.3261C>G	ENSP00000242839.4:p.Thr1087=
ENST00000344297.8:c.2640C>G	ENSP00000342559.5:p.Thr880=
ENST00000400366.5:c.2928C>G	ENSP00000383217.3:p.Thr976=
ENST00000400370.8:c.1971C>G	ENSP00000383221.3:p.Thr657=
ENST00000418097.7:c.3066C>G	ENSP00000393343.2:p.Thr1022=
ENST00000448424.6:c.3027C>G	ENSP00000416738.2:p.Thr1009=
ENST00000634296.1:c.1039C>G
ENST00000634308.1:c.*362C>G	ENSP00000489234.1:n.*362C>G
ENST00000634620.1:n.4005C>G
ENST00000634810.1:n.2606C>G
ENST00000634844.1:c.3117C>G	ENSP00000489398.1:p.Thr1039=
NM_000053.3:c.3261C>G	NP_000044.2:p.Thr1087=
NM_001005918.2:c.2640C>G	NP_001005918.1:p.Thr880=
NM_001243182.1:c.2928C>G	NP_001230111.1:p.Thr976=
XM_005266423.2:c.3165C>G	XP_005266480.1:p.Thr1055=
XM_005266424.3:c.3165C>G	XP_005266481.1:p.Thr1055=
XM_005266427.2:c.3027C>G	XP_005266484.1:p.Thr1009=
XM_005266428.1:c.3009C>G	XP_005266485.1:p.Thr1003=
XM_005266430.3:c.3261C>G	XP_005266487.1:p.Thr1087=
XM_005266431.2:c.3225C>G	XP_005266488.1:p.Thr1075=
XM_005266432.2:c.2775C>G	XP_005266489.1:p.Thr925=
XM_006719837.2:c.3165C>G	XP_006719900.1:p.Thr1055=
XM_006719838.1:c.1077C>G	XP_006719901.1:p.Thr359=
XM_006719839.1:c.894C>G	XP_006719902.1:p.Thr298=
XM_011535117.1:c.3165C>G	XP_011533419.1:p.Thr1055=
XM_011535118.1:c.3126C>G	XP_011533420.1:p.Thr1042=
XM_011535119.1:c.3078C>G	XP_011533421.1:p.Thr1026=
XM_011535120.1:c.2847C>G	XP_011533422.1:p.Thr949=
XM_011535121.1:c.2748C>G	XP_011533423.1:p.Thr916=
XM_011535122.1:c.1929C>G	XP_011533424.1:p.Thr643=
XR_941601.1:n.3480C>G
XR_941602.1:n.3480C>G
XR_941603.1:n.3480C>G
XR_941604.1:n.3480C>G
NM_001330578.1:c.3027C>G	NP_001317507.1:p.Thr1009=
NM_001330579.1:c.3009C>G	NP_001317508.1:p.Thr1003=
XM_005266424.4:c.3165C>G	XP_005266481.1:p.Thr1055=
XM_005266430.4:c.3261C>G	XP_005266487.1:p.Thr1087=
XM_005266431.4:c.3225C>G	XP_005266488.1:p.Thr1075=
XM_006719837.3:c.3165C>G	XP_006719900.1:p.Thr1055=
XM_011535117.3:c.3165C>G	XP_011533419.1:p.Thr1055=
XM_017020627.1:c.3165C>G	XP_016876116.1:p.Thr1055=
NM_000053.4:c.3261C>G MANE Select	NP_000044.2:p.Thr1087=
NM_001005918.3:c.2640C>G	NP_001005918.1:p.Thr880=
NM_001330579.2:c.3009C>G	NP_001317508.1:p.Thr1003=
NM_001243182.2:c.2928C>G	NP_001230111.1:p.Thr976=
NM_001330578.2:c.3027C>G	NP_001317507.1:p.Thr1009=