Canonical Allele Identifier: CA388025845

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 558238
• ClinVar RCV Id: RCV000674475
• dbSNP Id: rs786204547
• gnomAD v2: 13-52515217-C-G
• gnomAD v3: 13-51941081-C-G
• gnomAD v4: 13-51941081-C-G
• MyVariant Identifiers: chr13:g.52515217C>G (hg19) ; chr13:g.51941081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941081C>G , CM000675.2:g.51941081C>G	GRCh38
NC_000013.10:g.52515217C>G , CM000675.1:g.52515217C>G	GRCh37
NC_000013.9:g.51413218C>G	NCBI36
NG_008806.1:g.75414G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1206G>C	ENSP00000489512.2:n.*1206G>C
ENST00000673864.2:c.*2300G>C	ENSP00000501045.2:n.*2300G>C
ENST00000674147.2:c.2935G>C	ENSP00000500964.2:p.Gly979Arg
ENST00000242839.10:c.3556G>C MANE Select	ENSP00000242839.5:p.Gly1186Arg
ENST00000344297.9:c.2935G>C	ENSP00000342559.5:p.Gly979Arg
ENST00000400366.6:c.3223G>C	ENSP00000383217.3:p.Gly1075Arg
ENST00000448424.7:c.3304G>C	ENSP00000416738.3:p.Gly1102Arg
ENST00000673772.1:c.3322G>C	ENSP00000501168.1:p.Gly1108Arg
ENST00000673867.1:n.3695G>C
ENST00000674126.1:n.3919G>C
ENST00000674147.1:c.2491G>C	ENSP00000500964.1:p.Gly831Arg
ENST00000242839.8:c.3556G>C	ENSP00000242839.4:p.Gly1186Arg
ENST00000344297.8:c.2935G>C	ENSP00000342559.5:p.Gly979Arg
ENST00000400366.5:c.3223G>C	ENSP00000383217.3:p.Gly1075Arg
ENST00000400370.8:c.2266G>C	ENSP00000383221.3:p.Gly756Arg
ENST00000418097.7:c.3361G>C	ENSP00000393343.2:p.Gly1121Arg
ENST00000448424.6:c.3322G>C	ENSP00000416738.2:p.Gly1108Arg
ENST00000634296.1:c.1334G>C
ENST00000634308.1:c.*657G>C	ENSP00000489234.1:n.*657G>C
ENST00000634620.1:n.4300G>C
ENST00000634810.1:n.2901G>C
ENST00000634844.1:c.3412G>C	ENSP00000489398.1:p.Gly1138Arg
NM_000053.3:c.3556G>C	NP_000044.2:p.Gly1186Arg
NM_001005918.2:c.2935G>C	NP_001005918.1:p.Gly979Arg
NM_001243182.1:c.3223G>C	NP_001230111.1:p.Gly1075Arg
XM_005266423.2:c.3460G>C	XP_005266480.1:p.Gly1154Arg
XM_005266424.3:c.3460G>C	XP_005266481.1:p.Gly1154Arg
XM_005266427.2:c.3322G>C	XP_005266484.1:p.Gly1108Arg
XM_005266428.1:c.3304G>C	XP_005266485.1:p.Gly1102Arg
XM_005266430.3:c.3556G>C	XP_005266487.1:p.Gly1186Arg
XM_005266431.2:c.3520G>C	XP_005266488.1:p.Gly1174Arg
XM_005266432.2:c.3070G>C	XP_005266489.1:p.Gly1024Arg
XM_006719837.2:c.3460G>C	XP_006719900.1:p.Gly1154Arg
XM_006719838.1:c.1372G>C	XP_006719901.1:p.Gly458Arg
XM_006719839.1:c.1189G>C	XP_006719902.1:p.Gly397Arg
XM_011535117.1:c.3460G>C	XP_011533419.1:p.Gly1154Arg
XM_011535118.1:c.3421G>C	XP_011533420.1:p.Gly1141Arg
XM_011535119.1:c.3373G>C	XP_011533421.1:p.Gly1125Arg
XM_011535120.1:c.3142G>C	XP_011533422.1:p.Gly1048Arg
XM_011535121.1:c.3043G>C	XP_011533423.1:p.Gly1015Arg
XM_011535122.1:c.2224G>C	XP_011533424.1:p.Gly742Arg
XR_941601.1:n.3775G>C
XR_941602.1:n.3775G>C
XR_941603.1:n.3775G>C
XR_941604.1:n.3775G>C
NM_001330578.1:c.3322G>C	NP_001317507.1:p.Gly1108Arg
NM_001330579.1:c.3304G>C	NP_001317508.1:p.Gly1102Arg
XM_005266424.4:c.3460G>C	XP_005266481.1:p.Gly1154Arg
XM_005266430.4:c.3556G>C	XP_005266487.1:p.Gly1186Arg
XM_005266431.4:c.3520G>C	XP_005266488.1:p.Gly1174Arg
XM_006719837.3:c.3460G>C	XP_006719900.1:p.Gly1154Arg
XM_011535117.3:c.3460G>C	XP_011533419.1:p.Gly1154Arg
XM_017020627.1:c.3460G>C	XP_016876116.1:p.Gly1154Arg
NM_000053.4:c.3556G>C MANE Select	NP_000044.2:p.Gly1186Arg
NM_001005918.3:c.2935G>C	NP_001005918.1:p.Gly979Arg
NM_001330579.2:c.3304G>C	NP_001317508.1:p.Gly1102Arg
NM_001243182.2:c.3223G>C	NP_001230111.1:p.Gly1075Arg
NM_001330578.2:c.3322G>C	NP_001317507.1:p.Gly1108Arg