Canonical Allele Identifier: CA388026582

Gene: ATP7B

Linked Data

• dbSNP Id: rs1290927406
• gnomAD v2: 13-52515315-C-G
• gnomAD v4: 13-51941179-C-G
• MyVariant Identifiers: chr13:g.52515315C>G (hg19) ; chr13:g.51941179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941179C>G , CM000675.2:g.51941179C>G	GRCh38
NC_000013.10:g.52515315C>G , CM000675.1:g.52515315C>G	GRCh37
NC_000013.9:g.51413316C>G	NCBI36
NG_008806.1:g.75316G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1108G>C	ENSP00000489512.2:n.*1108G>C
ENST00000673864.2:c.*2202G>C	ENSP00000501045.2:n.*2202G>C
ENST00000674147.2:c.2837G>C	ENSP00000500964.2:p.Trp946Ser
ENST00000242839.10:c.3458G>C MANE Select	ENSP00000242839.5:p.Trp1153Ser
ENST00000344297.9:c.2837G>C	ENSP00000342559.5:p.Trp946Ser
ENST00000400366.6:c.3125G>C	ENSP00000383217.3:p.Trp1042Ser
ENST00000448424.7:c.3206G>C	ENSP00000416738.3:p.Trp1069Ser
ENST00000673772.1:c.3224G>C	ENSP00000501168.1:p.Trp1075Ser
ENST00000673867.1:n.3597G>C
ENST00000674126.1:n.3821G>C
ENST00000674147.1:c.2393G>C	ENSP00000500964.1:p.Trp798Ser
ENST00000242839.8:c.3458G>C	ENSP00000242839.4:p.Trp1153Ser
ENST00000344297.8:c.2837G>C	ENSP00000342559.5:p.Trp946Ser
ENST00000400366.5:c.3125G>C	ENSP00000383217.3:p.Trp1042Ser
ENST00000400370.8:c.2168G>C	ENSP00000383221.3:p.Trp723Ser
ENST00000418097.7:c.3263G>C	ENSP00000393343.2:p.Trp1088Ser
ENST00000448424.6:c.3224G>C	ENSP00000416738.2:p.Trp1075Ser
ENST00000634296.1:c.1236G>C
ENST00000634308.1:c.*559G>C	ENSP00000489234.1:n.*559G>C
ENST00000634620.1:n.4202G>C
ENST00000634810.1:n.2803G>C
ENST00000634844.1:c.3314G>C	ENSP00000489398.1:p.Trp1105Ser
NM_000053.3:c.3458G>C	NP_000044.2:p.Trp1153Ser
NM_001005918.2:c.2837G>C	NP_001005918.1:p.Trp946Ser
NM_001243182.1:c.3125G>C	NP_001230111.1:p.Trp1042Ser
XM_005266423.2:c.3362G>C	XP_005266480.1:p.Trp1121Ser
XM_005266424.3:c.3362G>C	XP_005266481.1:p.Trp1121Ser
XM_005266427.2:c.3224G>C	XP_005266484.1:p.Trp1075Ser
XM_005266428.1:c.3206G>C	XP_005266485.1:p.Trp1069Ser
XM_005266430.3:c.3458G>C	XP_005266487.1:p.Trp1153Ser
XM_005266431.2:c.3422G>C	XP_005266488.1:p.Trp1141Ser
XM_005266432.2:c.2972G>C	XP_005266489.1:p.Trp991Ser
XM_006719837.2:c.3362G>C	XP_006719900.1:p.Trp1121Ser
XM_006719838.1:c.1274G>C	XP_006719901.1:p.Trp425Ser
XM_006719839.1:c.1091G>C	XP_006719902.1:p.Trp364Ser
XM_011535117.1:c.3362G>C	XP_011533419.1:p.Trp1121Ser
XM_011535118.1:c.3323G>C	XP_011533420.1:p.Trp1108Ser
XM_011535119.1:c.3275G>C	XP_011533421.1:p.Trp1092Ser
XM_011535120.1:c.3044G>C	XP_011533422.1:p.Trp1015Ser
XM_011535121.1:c.2945G>C	XP_011533423.1:p.Trp982Ser
XM_011535122.1:c.2126G>C	XP_011533424.1:p.Trp709Ser
XR_941601.1:n.3677G>C
XR_941602.1:n.3677G>C
XR_941603.1:n.3677G>C
XR_941604.1:n.3677G>C
NM_001330578.1:c.3224G>C	NP_001317507.1:p.Trp1075Ser
NM_001330579.1:c.3206G>C	NP_001317508.1:p.Trp1069Ser
XM_005266424.4:c.3362G>C	XP_005266481.1:p.Trp1121Ser
XM_005266430.4:c.3458G>C	XP_005266487.1:p.Trp1153Ser
XM_005266431.4:c.3422G>C	XP_005266488.1:p.Trp1141Ser
XM_006719837.3:c.3362G>C	XP_006719900.1:p.Trp1121Ser
XM_011535117.3:c.3362G>C	XP_011533419.1:p.Trp1121Ser
XM_017020627.1:c.3362G>C	XP_016876116.1:p.Trp1121Ser
NM_000053.4:c.3458G>C MANE Select	NP_000044.2:p.Trp1153Ser
NM_001005918.3:c.2837G>C	NP_001005918.1:p.Trp946Ser
NM_001330579.2:c.3206G>C	NP_001317508.1:p.Trp1069Ser
NM_001243182.2:c.3125G>C	NP_001230111.1:p.Trp1042Ser
NM_001330578.2:c.3224G>C	NP_001317507.1:p.Trp1075Ser