Canonical Allele Identifier: CA388030306

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3075298
• ClinVar RCV Id: RCV004015824
• gnomAD v4: 13-51944230-C-T
• MyVariant Identifiers: chr13:g.52518366C>T (hg19) ; chr13:g.51944230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944230C>T , CM000675.2:g.51944230C>T	GRCh38
NC_000013.10:g.52518366C>T , CM000675.1:g.52518366C>T	GRCh37
NC_000013.9:g.51416367C>T	NCBI36
NG_008806.1:g.72265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1676G>A	ENSP00000489512.2:n.*894-1676G>A
ENST00000673864.2:c.*1866G>A	ENSP00000501045.2:n.*1866G>A
ENST00000674147.2:c.2501G>A	ENSP00000500964.2:p.Arg834Gln
ENST00000242839.10:c.3122G>A MANE Select	ENSP00000242839.5:p.Arg1041Gln
ENST00000344297.9:c.2501G>A	ENSP00000342559.5:p.Arg834Gln
ENST00000400366.6:c.2789G>A	ENSP00000383217.3:p.Arg930Gln
ENST00000448424.7:c.2870G>A	ENSP00000416738.3:p.Arg957Gln
ENST00000673772.1:c.2888G>A	ENSP00000501168.1:p.Arg963Gln
ENST00000673867.1:n.3261G>A
ENST00000674126.1:n.3485G>A
ENST00000674147.1:c.2057G>A	ENSP00000500964.1:p.Arg686Gln
ENST00000242839.8:c.3122G>A	ENSP00000242839.4:p.Arg1041Gln
ENST00000344297.8:c.2501G>A	ENSP00000342559.5:p.Arg834Gln
ENST00000400366.5:c.2789G>A	ENSP00000383217.3:p.Arg930Gln
ENST00000400370.8:c.1832G>A	ENSP00000383221.3:p.Arg611Gln
ENST00000418097.7:c.2927G>A	ENSP00000393343.2:p.Arg976Gln
ENST00000448424.6:c.2888G>A	ENSP00000416738.2:p.Arg963Gln
ENST00000466629.1:n.342G>A
ENST00000634296.1:c.1022-1676G>A
ENST00000634308.1:c.*223G>A	ENSP00000489234.1:n.*223G>A
ENST00000634620.1:n.3866G>A
ENST00000634810.1:n.2467G>A
ENST00000634844.1:c.2978G>A	ENSP00000489398.1:p.Arg993Gln
ENST00000635406.1:n.468G>A
NM_000053.3:c.3122G>A	NP_000044.2:p.Arg1041Gln
NM_001005918.2:c.2501G>A	NP_001005918.1:p.Arg834Gln
NM_001243182.1:c.2789G>A	NP_001230111.1:p.Arg930Gln
XM_005266423.2:c.3026G>A	XP_005266480.1:p.Arg1009Gln
XM_005266424.3:c.3026G>A	XP_005266481.1:p.Arg1009Gln
XM_005266427.2:c.2888G>A	XP_005266484.1:p.Arg963Gln
XM_005266428.1:c.2870G>A	XP_005266485.1:p.Arg957Gln
XM_005266430.3:c.3122G>A	XP_005266487.1:p.Arg1041Gln
XM_005266431.2:c.3086G>A	XP_005266488.1:p.Arg1029Gln
XM_005266432.2:c.2636G>A	XP_005266489.1:p.Arg879Gln
XM_006719837.2:c.3026G>A	XP_006719900.1:p.Arg1009Gln
XM_006719838.1:c.938G>A	XP_006719901.1:p.Arg313Gln
XM_006719839.1:c.877-1676G>A	XP_006719902.1:n.877-1676G>A
XM_011535117.1:c.3026G>A	XP_011533419.1:p.Arg1009Gln
XM_011535118.1:c.2987G>A	XP_011533420.1:p.Arg996Gln
XM_011535119.1:c.3061-1676G>A	XP_011533421.1:n.3061-1676G>A
XM_011535120.1:c.2708G>A	XP_011533422.1:p.Arg903Gln
XM_011535121.1:c.2731-1676G>A	XP_011533423.1:n.2731-1676G>A
XM_011535122.1:c.1790G>A	XP_011533424.1:p.Arg597Gln
XR_941601.1:n.3341G>A
XR_941602.1:n.3341G>A
XR_941603.1:n.3341G>A
XR_941604.1:n.3341G>A
NM_001330578.1:c.2888G>A	NP_001317507.1:p.Arg963Gln
NM_001330579.1:c.2870G>A	NP_001317508.1:p.Arg957Gln
XM_005266424.4:c.3026G>A	XP_005266481.1:p.Arg1009Gln
XM_005266430.4:c.3122G>A	XP_005266487.1:p.Arg1041Gln
XM_005266431.4:c.3086G>A	XP_005266488.1:p.Arg1029Gln
XM_006719837.3:c.3026G>A	XP_006719900.1:p.Arg1009Gln
XM_011535117.3:c.3026G>A	XP_011533419.1:p.Arg1009Gln
XM_017020627.1:c.3026G>A	XP_016876116.1:p.Arg1009Gln
NM_000053.4:c.3122G>A MANE Select	NP_000044.2:p.Arg1041Gln
NM_001005918.3:c.2501G>A	NP_001005918.1:p.Arg834Gln
NM_001330579.2:c.2870G>A	NP_001317508.1:p.Arg957Gln
NM_001243182.2:c.2789G>A	NP_001230111.1:p.Arg930Gln
NM_001330578.2:c.2888G>A	NP_001317507.1:p.Arg963Gln