Canonical Allele Identifier: CA388026522

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2070162
• ClinVar RCV Id: RCV002966924
• dbSNP Id: rs1314586868
• gnomAD v2: 13-52515307-G-A
• gnomAD v4: 13-51941171-G-A
• COSMIC: COSM3748575
• MyVariant Identifiers: chr13:g.52515307G>A (hg19) ; chr13:g.51941171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941171G>A , CM000675.2:g.51941171G>A	GRCh38
NC_000013.10:g.52515307G>A , CM000675.1:g.52515307G>A	GRCh37
NC_000013.9:g.51413308G>A	NCBI36
NG_008806.1:g.75324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1116C>T	ENSP00000489512.2:n.*1116C>T
ENST00000673864.2:c.*2210C>T	ENSP00000501045.2:n.*2210C>T
ENST00000674147.2:c.2845C>T	ENSP00000500964.2:p.Arg949Cys
ENST00000242839.10:c.3466C>T MANE Select	ENSP00000242839.5:p.Arg1156Cys
ENST00000344297.9:c.2845C>T	ENSP00000342559.5:p.Arg949Cys
ENST00000400366.6:c.3133C>T	ENSP00000383217.3:p.Arg1045Cys
ENST00000448424.7:c.3214C>T	ENSP00000416738.3:p.Arg1072Cys
ENST00000673772.1:c.3232C>T	ENSP00000501168.1:p.Arg1078Cys
ENST00000673867.1:n.3605C>T
ENST00000674126.1:n.3829C>T
ENST00000674147.1:c.2401C>T	ENSP00000500964.1:p.Arg801Cys
ENST00000242839.8:c.3466C>T	ENSP00000242839.4:p.Arg1156Cys
ENST00000344297.8:c.2845C>T	ENSP00000342559.5:p.Arg949Cys
ENST00000400366.5:c.3133C>T	ENSP00000383217.3:p.Arg1045Cys
ENST00000400370.8:c.2176C>T	ENSP00000383221.3:p.Arg726Cys
ENST00000418097.7:c.3271C>T	ENSP00000393343.2:p.Arg1091Cys
ENST00000448424.6:c.3232C>T	ENSP00000416738.2:p.Arg1078Cys
ENST00000634296.1:c.1244C>T
ENST00000634308.1:c.*567C>T	ENSP00000489234.1:n.*567C>T
ENST00000634620.1:n.4210C>T
ENST00000634810.1:n.2811C>T
ENST00000634844.1:c.3322C>T	ENSP00000489398.1:p.Arg1108Cys
NM_000053.3:c.3466C>T	NP_000044.2:p.Arg1156Cys
NM_001005918.2:c.2845C>T	NP_001005918.1:p.Arg949Cys
NM_001243182.1:c.3133C>T	NP_001230111.1:p.Arg1045Cys
XM_005266423.2:c.3370C>T	XP_005266480.1:p.Arg1124Cys
XM_005266424.3:c.3370C>T	XP_005266481.1:p.Arg1124Cys
XM_005266427.2:c.3232C>T	XP_005266484.1:p.Arg1078Cys
XM_005266428.1:c.3214C>T	XP_005266485.1:p.Arg1072Cys
XM_005266430.3:c.3466C>T	XP_005266487.1:p.Arg1156Cys
XM_005266431.2:c.3430C>T	XP_005266488.1:p.Arg1144Cys
XM_005266432.2:c.2980C>T	XP_005266489.1:p.Arg994Cys
XM_006719837.2:c.3370C>T	XP_006719900.1:p.Arg1124Cys
XM_006719838.1:c.1282C>T	XP_006719901.1:p.Arg428Cys
XM_006719839.1:c.1099C>T	XP_006719902.1:p.Arg367Cys
XM_011535117.1:c.3370C>T	XP_011533419.1:p.Arg1124Cys
XM_011535118.1:c.3331C>T	XP_011533420.1:p.Arg1111Cys
XM_011535119.1:c.3283C>T	XP_011533421.1:p.Arg1095Cys
XM_011535120.1:c.3052C>T	XP_011533422.1:p.Arg1018Cys
XM_011535121.1:c.2953C>T	XP_011533423.1:p.Arg985Cys
XM_011535122.1:c.2134C>T	XP_011533424.1:p.Arg712Cys
XR_941601.1:n.3685C>T
XR_941602.1:n.3685C>T
XR_941603.1:n.3685C>T
XR_941604.1:n.3685C>T
NM_001330578.1:c.3232C>T	NP_001317507.1:p.Arg1078Cys
NM_001330579.1:c.3214C>T	NP_001317508.1:p.Arg1072Cys
XM_005266424.4:c.3370C>T	XP_005266481.1:p.Arg1124Cys
XM_005266430.4:c.3466C>T	XP_005266487.1:p.Arg1156Cys
XM_005266431.4:c.3430C>T	XP_005266488.1:p.Arg1144Cys
XM_006719837.3:c.3370C>T	XP_006719900.1:p.Arg1124Cys
XM_011535117.3:c.3370C>T	XP_011533419.1:p.Arg1124Cys
XM_017020627.1:c.3370C>T	XP_016876116.1:p.Arg1124Cys
NM_000053.4:c.3466C>T MANE Select	NP_000044.2:p.Arg1156Cys
NM_001005918.3:c.2845C>T	NP_001005918.1:p.Arg949Cys
NM_001330579.2:c.3214C>T	NP_001317508.1:p.Arg1072Cys
NM_001243182.2:c.3133C>T	NP_001230111.1:p.Arg1045Cys
NM_001330578.2:c.3232C>T	NP_001317507.1:p.Arg1078Cys