Canonical Allele Identifier: CA6988787

Gene: ATP7B

Linked Data

• dbSNP Id: rs757693695
• ExAC: 13:52518309 A / G
• gnomAD v2: 13-52518309-A-G
• gnomAD v4: 13-51944173-A-G
• MyVariant Identifiers: chr13:g.52518309A>G (hg19) ; chr13:g.51944173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944173A>G , CM000675.2:g.51944173A>G	GRCh38
NC_000013.10:g.52518309A>G , CM000675.1:g.52518309A>G	GRCh37
NC_000013.9:g.51416310A>G	NCBI36
NG_008806.1:g.72322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1619T>C	ENSP00000489512.2:n.*894-1619T>C
ENST00000673864.2:c.*1923T>C	ENSP00000501045.2:n.*1923T>C
ENST00000674147.2:c.2558T>C	ENSP00000500964.2:p.Val853Ala
ENST00000242839.10:c.3179T>C MANE Select	ENSP00000242839.5:p.Val1060Ala
ENST00000344297.9:c.2558T>C	ENSP00000342559.5:p.Val853Ala
ENST00000400366.6:c.2846T>C	ENSP00000383217.3:p.Val949Ala
ENST00000448424.7:c.2927T>C	ENSP00000416738.3:p.Val976Ala
ENST00000673772.1:c.2945T>C	ENSP00000501168.1:p.Val982Ala
ENST00000673867.1:n.3318T>C
ENST00000674126.1:n.3542T>C
ENST00000674147.1:c.2114T>C	ENSP00000500964.1:p.Val705Ala
ENST00000242839.8:c.3179T>C	ENSP00000242839.4:p.Val1060Ala
ENST00000344297.8:c.2558T>C	ENSP00000342559.5:p.Val853Ala
ENST00000400366.5:c.2846T>C	ENSP00000383217.3:p.Val949Ala
ENST00000400370.8:c.1889T>C	ENSP00000383221.3:p.Val630Ala
ENST00000418097.7:c.2984T>C	ENSP00000393343.2:p.Val995Ala
ENST00000448424.6:c.2945T>C	ENSP00000416738.2:p.Val982Ala
ENST00000466629.1:n.399T>C
ENST00000634296.1:c.1022-1619T>C
ENST00000634308.1:c.*280T>C	ENSP00000489234.1:n.*280T>C
ENST00000634620.1:n.3923T>C
ENST00000634810.1:n.2524T>C
ENST00000634844.1:c.3035T>C	ENSP00000489398.1:p.Val1012Ala
NM_000053.3:c.3179T>C	NP_000044.2:p.Val1060Ala
NM_001005918.2:c.2558T>C	NP_001005918.1:p.Val853Ala
NM_001243182.1:c.2846T>C	NP_001230111.1:p.Val949Ala
XM_005266423.2:c.3083T>C	XP_005266480.1:p.Val1028Ala
XM_005266424.3:c.3083T>C	XP_005266481.1:p.Val1028Ala
XM_005266427.2:c.2945T>C	XP_005266484.1:p.Val982Ala
XM_005266428.1:c.2927T>C	XP_005266485.1:p.Val976Ala
XM_005266430.3:c.3179T>C	XP_005266487.1:p.Val1060Ala
XM_005266431.2:c.3143T>C	XP_005266488.1:p.Val1048Ala
XM_005266432.2:c.2693T>C	XP_005266489.1:p.Val898Ala
XM_006719837.2:c.3083T>C	XP_006719900.1:p.Val1028Ala
XM_006719838.1:c.995T>C	XP_006719901.1:p.Val332Ala
XM_006719839.1:c.877-1619T>C	XP_006719902.1:n.877-1619T>C
XM_011535117.1:c.3083T>C	XP_011533419.1:p.Val1028Ala
XM_011535118.1:c.3044T>C	XP_011533420.1:p.Val1015Ala
XM_011535119.1:c.3061-1619T>C	XP_011533421.1:n.3061-1619T>C
XM_011535120.1:c.2765T>C	XP_011533422.1:p.Val922Ala
XM_011535121.1:c.2731-1619T>C	XP_011533423.1:n.2731-1619T>C
XM_011535122.1:c.1847T>C	XP_011533424.1:p.Val616Ala
XR_941601.1:n.3398T>C
XR_941602.1:n.3398T>C
XR_941603.1:n.3398T>C
XR_941604.1:n.3398T>C
NM_001330578.1:c.2945T>C	NP_001317507.1:p.Val982Ala
NM_001330579.1:c.2927T>C	NP_001317508.1:p.Val976Ala
XM_005266424.4:c.3083T>C	XP_005266481.1:p.Val1028Ala
XM_005266430.4:c.3179T>C	XP_005266487.1:p.Val1060Ala
XM_005266431.4:c.3143T>C	XP_005266488.1:p.Val1048Ala
XM_006719837.3:c.3083T>C	XP_006719900.1:p.Val1028Ala
XM_011535117.3:c.3083T>C	XP_011533419.1:p.Val1028Ala
XM_017020627.1:c.3083T>C	XP_016876116.1:p.Val1028Ala
NM_000053.4:c.3179T>C MANE Select	NP_000044.2:p.Val1060Ala
NM_001005918.3:c.2558T>C	NP_001005918.1:p.Val853Ala
NM_001330579.2:c.2927T>C	NP_001317508.1:p.Val976Ala
NM_001243182.2:c.2846T>C	NP_001230111.1:p.Val949Ala
NM_001330578.2:c.2945T>C	NP_001317507.1:p.Val982Ala