Canonical Allele Identifier: CA388021381

Gene: ATP7B

Linked Data

• dbSNP Id: rs749472361
• gnomAD v2: 13-52511620-G-C
• gnomAD v4: 13-51937484-G-C
• MyVariant Identifiers: chr13:g.52511620G>C (hg19) ; chr13:g.51937484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937484G>C , CM000675.2:g.51937484G>C	GRCh38
NC_000013.10:g.52511620G>C , CM000675.1:g.52511620G>C	GRCh37
NC_000013.9:g.51409621G>C	NCBI36
NG_008806.1:g.79011C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1545C>G	ENSP00000489512.2:n.*1545C>G
ENST00000673864.2:c.*2639C>G	ENSP00000501045.2:n.*2639C>G
ENST00000674147.2:c.3274C>G	ENSP00000500964.2:p.Leu1092Val
ENST00000242839.10:c.3895C>G MANE Select	ENSP00000242839.5:p.Leu1299Val
ENST00000344297.9:c.3274C>G	ENSP00000342559.5:p.Leu1092Val
ENST00000400366.6:c.3562C>G	ENSP00000383217.3:p.Leu1188Val
ENST00000448424.7:c.3643C>G	ENSP00000416738.3:p.Leu1215Val
ENST00000673696.1:n.1136C>G
ENST00000673772.1:c.3661C>G	ENSP00000501168.1:p.Leu1221Val
ENST00000673867.1:n.4034C>G
ENST00000673923.1:n.761C>G
ENST00000674147.1:c.2830C>G	ENSP00000500964.1:p.Leu944Val
ENST00000242839.8:c.3895C>G	ENSP00000242839.4:p.Leu1299Val
ENST00000344297.8:c.3274C>G	ENSP00000342559.5:p.Leu1092Val
ENST00000400366.5:c.3562C>G	ENSP00000383217.3:p.Leu1188Val
ENST00000400370.8:c.2605C>G	ENSP00000383221.3:p.Leu869Val
ENST00000418097.7:c.3700C>G	ENSP00000393343.2:p.Leu1234Val
ENST00000448424.6:c.3661C>G	ENSP00000416738.2:p.Leu1221Val
ENST00000634296.1:c.1673C>G
ENST00000634308.1:c.*996C>G	ENSP00000489234.1:n.*996C>G
ENST00000634620.1:n.4639C>G
ENST00000634810.1:n.3240C>G
ENST00000634844.1:c.3751C>G	ENSP00000489398.1:p.Leu1251Val
NM_000053.3:c.3895C>G	NP_000044.2:p.Leu1299Val
NM_001005918.2:c.3274C>G	NP_001005918.1:p.Leu1092Val
NM_001243182.1:c.3562C>G	NP_001230111.1:p.Leu1188Val
XM_005266423.2:c.3799C>G	XP_005266480.1:p.Leu1267Val
XM_005266424.3:c.3799C>G	XP_005266481.1:p.Leu1267Val
XM_005266427.2:c.3661C>G	XP_005266484.1:p.Leu1221Val
XM_005266428.1:c.3643C>G	XP_005266485.1:p.Leu1215Val
XM_005266430.3:c.3895C>G	XP_005266487.1:p.Leu1299Val
XM_005266431.2:c.3859C>G	XP_005266488.1:p.Leu1287Val
XM_005266432.2:c.3409C>G	XP_005266489.1:p.Leu1137Val
XM_006719837.2:c.3799C>G	XP_006719900.1:p.Leu1267Val
XM_006719838.1:c.1711C>G	XP_006719901.1:p.Leu571Val
XM_006719839.1:c.1528C>G	XP_006719902.1:p.Leu510Val
XM_011535117.1:c.3799C>G	XP_011533419.1:p.Leu1267Val
XM_011535118.1:c.3760C>G	XP_011533420.1:p.Leu1254Val
XM_011535119.1:c.3712C>G	XP_011533421.1:p.Leu1238Val
XM_011535120.1:c.3481C>G	XP_011533422.1:p.Leu1161Val
XM_011535121.1:c.3382C>G	XP_011533423.1:p.Leu1128Val
XM_011535122.1:c.2563C>G	XP_011533424.1:p.Leu855Val
XR_941601.1:n.4114C>G
XR_941602.1:n.4114C>G
XR_941603.1:n.4114C>G
XR_941604.1:n.4114C>G
NM_001330578.1:c.3661C>G	NP_001317507.1:p.Leu1221Val
NM_001330579.1:c.3643C>G	NP_001317508.1:p.Leu1215Val
XM_005266424.4:c.3799C>G	XP_005266481.1:p.Leu1267Val
XM_005266430.4:c.3895C>G	XP_005266487.1:p.Leu1299Val
XM_005266431.4:c.3859C>G	XP_005266488.1:p.Leu1287Val
XM_006719837.3:c.3799C>G	XP_006719900.1:p.Leu1267Val
XM_011535117.3:c.3799C>G	XP_011533419.1:p.Leu1267Val
XM_017020627.1:c.3799C>G	XP_016876116.1:p.Leu1267Val
NM_000053.4:c.3895C>G MANE Select	NP_000044.2:p.Leu1299Val
NM_001005918.3:c.3274C>G	NP_001005918.1:p.Leu1092Val
NM_001330579.2:c.3643C>G	NP_001317508.1:p.Leu1215Val
NM_001243182.2:c.3562C>G	NP_001230111.1:p.Leu1188Val
NM_001330578.2:c.3661C>G	NP_001317507.1:p.Leu1221Val