Canonical Allele Identifier: CA388026824

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515358C>G (hg19) ; chr13:g.51941222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941222C>G , CM000675.2:g.51941222C>G	GRCh38
NC_000013.10:g.52515358C>G , CM000675.1:g.52515358C>G	GRCh37
NC_000013.9:g.51413359C>G	NCBI36
NG_008806.1:g.75273G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1065G>C	ENSP00000489512.2:n.*1065G>C
ENST00000673864.2:c.*2159G>C	ENSP00000501045.2:n.*2159G>C
ENST00000674147.2:c.2794G>C	ENSP00000500964.2:p.Ala932Pro
ENST00000242839.10:c.3415G>C MANE Select	ENSP00000242839.5:p.Ala1139Pro
ENST00000344297.9:c.2794G>C	ENSP00000342559.5:p.Ala932Pro
ENST00000400366.6:c.3082G>C	ENSP00000383217.3:p.Ala1028Pro
ENST00000448424.7:c.3163G>C	ENSP00000416738.3:p.Ala1055Pro
ENST00000673772.1:c.3181G>C	ENSP00000501168.1:p.Ala1061Pro
ENST00000673867.1:n.3554G>C
ENST00000674126.1:n.3778G>C
ENST00000674147.1:c.2350G>C	ENSP00000500964.1:p.Ala784Pro
ENST00000242839.8:c.3415G>C	ENSP00000242839.4:p.Ala1139Pro
ENST00000344297.8:c.2794G>C	ENSP00000342559.5:p.Ala932Pro
ENST00000400366.5:c.3082G>C	ENSP00000383217.3:p.Ala1028Pro
ENST00000400370.8:c.2125G>C	ENSP00000383221.3:p.Ala709Pro
ENST00000418097.7:c.3220G>C	ENSP00000393343.2:p.Ala1074Pro
ENST00000448424.6:c.3181G>C	ENSP00000416738.2:p.Ala1061Pro
ENST00000634296.1:c.1193G>C
ENST00000634308.1:c.*516G>C	ENSP00000489234.1:n.*516G>C
ENST00000634620.1:n.4159G>C
ENST00000634810.1:n.2760G>C
ENST00000634844.1:c.3271G>C	ENSP00000489398.1:p.Ala1091Pro
NM_000053.3:c.3415G>C	NP_000044.2:p.Ala1139Pro
NM_001005918.2:c.2794G>C	NP_001005918.1:p.Ala932Pro
NM_001243182.1:c.3082G>C	NP_001230111.1:p.Ala1028Pro
XM_005266423.2:c.3319G>C	XP_005266480.1:p.Ala1107Pro
XM_005266424.3:c.3319G>C	XP_005266481.1:p.Ala1107Pro
XM_005266427.2:c.3181G>C	XP_005266484.1:p.Ala1061Pro
XM_005266428.1:c.3163G>C	XP_005266485.1:p.Ala1055Pro
XM_005266430.3:c.3415G>C	XP_005266487.1:p.Ala1139Pro
XM_005266431.2:c.3379G>C	XP_005266488.1:p.Ala1127Pro
XM_005266432.2:c.2929G>C	XP_005266489.1:p.Ala977Pro
XM_006719837.2:c.3319G>C	XP_006719900.1:p.Ala1107Pro
XM_006719838.1:c.1231G>C	XP_006719901.1:p.Ala411Pro
XM_006719839.1:c.1048G>C	XP_006719902.1:p.Ala350Pro
XM_011535117.1:c.3319G>C	XP_011533419.1:p.Ala1107Pro
XM_011535118.1:c.3280G>C	XP_011533420.1:p.Ala1094Pro
XM_011535119.1:c.3232G>C	XP_011533421.1:p.Ala1078Pro
XM_011535120.1:c.3001G>C	XP_011533422.1:p.Ala1001Pro
XM_011535121.1:c.2902G>C	XP_011533423.1:p.Ala968Pro
XM_011535122.1:c.2083G>C	XP_011533424.1:p.Ala695Pro
XR_941601.1:n.3634G>C
XR_941602.1:n.3634G>C
XR_941603.1:n.3634G>C
XR_941604.1:n.3634G>C
NM_001330578.1:c.3181G>C	NP_001317507.1:p.Ala1061Pro
NM_001330579.1:c.3163G>C	NP_001317508.1:p.Ala1055Pro
XM_005266424.4:c.3319G>C	XP_005266481.1:p.Ala1107Pro
XM_005266430.4:c.3415G>C	XP_005266487.1:p.Ala1139Pro
XM_005266431.4:c.3379G>C	XP_005266488.1:p.Ala1127Pro
XM_006719837.3:c.3319G>C	XP_006719900.1:p.Ala1107Pro
XM_011535117.3:c.3319G>C	XP_011533419.1:p.Ala1107Pro
XM_017020627.1:c.3319G>C	XP_016876116.1:p.Ala1107Pro
NM_000053.4:c.3415G>C MANE Select	NP_000044.2:p.Ala1139Pro
NM_001005918.3:c.2794G>C	NP_001005918.1:p.Ala932Pro
NM_001330579.2:c.3163G>C	NP_001317508.1:p.Ala1055Pro
NM_001243182.2:c.3082G>C	NP_001230111.1:p.Ala1028Pro
NM_001330578.2:c.3181G>C	NP_001317507.1:p.Ala1061Pro