Canonical Allele Identifier: CA6988676

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2154616
• ClinVar RCV Id: RCV003069373
• dbSNP Id: rs776086518
• ExAC: 13:52515301 C / G
• gnomAD v2: 13-52515301-C-G
• gnomAD v3: 13-51941165-C-G
• gnomAD v4: 13-51941165-C-G
• MyVariant Identifiers: chr13:g.52515301C>G (hg19) ; chr13:g.51941165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941165C>G , CM000675.2:g.51941165C>G	GRCh38
NC_000013.10:g.52515301C>G , CM000675.1:g.52515301C>G	GRCh37
NC_000013.9:g.51413302C>G	NCBI36
NG_008806.1:g.75330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1122G>C	ENSP00000489512.2:n.*1122G>C
ENST00000673864.2:c.*2216G>C	ENSP00000501045.2:n.*2216G>C
ENST00000674147.2:c.2851G>C	ENSP00000500964.2:p.Gly951Arg
ENST00000242839.10:c.3472G>C MANE Select	ENSP00000242839.5:p.Gly1158Arg
ENST00000344297.9:c.2851G>C	ENSP00000342559.5:p.Gly951Arg
ENST00000400366.6:c.3139G>C	ENSP00000383217.3:p.Gly1047Arg
ENST00000448424.7:c.3220G>C	ENSP00000416738.3:p.Gly1074Arg
ENST00000673772.1:c.3238G>C	ENSP00000501168.1:p.Gly1080Arg
ENST00000673867.1:n.3611G>C
ENST00000674126.1:n.3835G>C
ENST00000674147.1:c.2407G>C	ENSP00000500964.1:p.Gly803Arg
ENST00000242839.8:c.3472G>C	ENSP00000242839.4:p.Gly1158Arg
ENST00000344297.8:c.2851G>C	ENSP00000342559.5:p.Gly951Arg
ENST00000400366.5:c.3139G>C	ENSP00000383217.3:p.Gly1047Arg
ENST00000400370.8:c.2182G>C	ENSP00000383221.3:p.Gly728Arg
ENST00000418097.7:c.3277G>C	ENSP00000393343.2:p.Gly1093Arg
ENST00000448424.6:c.3238G>C	ENSP00000416738.2:p.Gly1080Arg
ENST00000634296.1:c.1250G>C
ENST00000634308.1:c.*573G>C	ENSP00000489234.1:n.*573G>C
ENST00000634620.1:n.4216G>C
ENST00000634810.1:n.2817G>C
ENST00000634844.1:c.3328G>C	ENSP00000489398.1:p.Gly1110Arg
NM_000053.3:c.3472G>C	NP_000044.2:p.Gly1158Arg
NM_001005918.2:c.2851G>C	NP_001005918.1:p.Gly951Arg
NM_001243182.1:c.3139G>C	NP_001230111.1:p.Gly1047Arg
XM_005266423.2:c.3376G>C	XP_005266480.1:p.Gly1126Arg
XM_005266424.3:c.3376G>C	XP_005266481.1:p.Gly1126Arg
XM_005266427.2:c.3238G>C	XP_005266484.1:p.Gly1080Arg
XM_005266428.1:c.3220G>C	XP_005266485.1:p.Gly1074Arg
XM_005266430.3:c.3472G>C	XP_005266487.1:p.Gly1158Arg
XM_005266431.2:c.3436G>C	XP_005266488.1:p.Gly1146Arg
XM_005266432.2:c.2986G>C	XP_005266489.1:p.Gly996Arg
XM_006719837.2:c.3376G>C	XP_006719900.1:p.Gly1126Arg
XM_006719838.1:c.1288G>C	XP_006719901.1:p.Gly430Arg
XM_006719839.1:c.1105G>C	XP_006719902.1:p.Gly369Arg
XM_011535117.1:c.3376G>C	XP_011533419.1:p.Gly1126Arg
XM_011535118.1:c.3337G>C	XP_011533420.1:p.Gly1113Arg
XM_011535119.1:c.3289G>C	XP_011533421.1:p.Gly1097Arg
XM_011535120.1:c.3058G>C	XP_011533422.1:p.Gly1020Arg
XM_011535121.1:c.2959G>C	XP_011533423.1:p.Gly987Arg
XM_011535122.1:c.2140G>C	XP_011533424.1:p.Gly714Arg
XR_941601.1:n.3691G>C
XR_941602.1:n.3691G>C
XR_941603.1:n.3691G>C
XR_941604.1:n.3691G>C
NM_001330578.1:c.3238G>C	NP_001317507.1:p.Gly1080Arg
NM_001330579.1:c.3220G>C	NP_001317508.1:p.Gly1074Arg
XM_005266424.4:c.3376G>C	XP_005266481.1:p.Gly1126Arg
XM_005266430.4:c.3472G>C	XP_005266487.1:p.Gly1158Arg
XM_005266431.4:c.3436G>C	XP_005266488.1:p.Gly1146Arg
XM_006719837.3:c.3376G>C	XP_006719900.1:p.Gly1126Arg
XM_011535117.3:c.3376G>C	XP_011533419.1:p.Gly1126Arg
XM_017020627.1:c.3376G>C	XP_016876116.1:p.Gly1126Arg
NM_000053.4:c.3472G>C MANE Select	NP_000044.2:p.Gly1158Arg
NM_001005918.3:c.2851G>C	NP_001005918.1:p.Gly951Arg
NM_001330579.2:c.3220G>C	NP_001317508.1:p.Gly1074Arg
NM_001243182.2:c.3139G>C	NP_001230111.1:p.Gly1047Arg
NM_001330578.2:c.3238G>C	NP_001317507.1:p.Gly1080Arg