Canonical Allele Identifier: CA2091549779
Community Standard Title: NM_000053.4(ATP7B):c.2337G= (p.Trp779=)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958329C= , CM000675.2:g.51958329C= GRCh38
NC_000013.10:g.52532465C= , CM000675.1:g.52532465C= GRCh37
NC_000013.9:g.51430466C= NCBI36
NG_008806.1:g.58166G=

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2337G= MANE Select NP_000044.2:p.Trp779=
ENST00000242839.10:c.2337G= MANE Select ENSP00000242839.5:p.Trp779=
NM_000053.3:c.2337G= NP_000044.2:p.Trp779=
NM_001005918.2:c.1870-722G= NP_001005918.1:n.1870-722G=
NM_001005918.3:c.1870-722G= NP_001005918.1:n.1870-722G=
NM_001243182.1:c.2004G= NP_001230111.1:p.Trp668=
NM_001243182.2:c.2004G= NP_001230111.1:p.Trp668=
NM_001330578.1:c.2122-722G= NP_001317507.1:n.2122-722G=
NM_001330578.2:c.2122-722G= NP_001317507.1:n.2122-722G=
NM_001330579.1:c.2085G= NP_001317508.1:p.Trp695=
NM_001330579.2:c.2085G= NP_001317508.1:p.Trp695=
ENST00000242839.8:c.2337G= ENSP00000242839.4:p.Trp779=
ENST00000344297.8:c.1870-722G= ENSP00000342559.5:n.1870-722G=
ENST00000344297.9:c.1870-722G= ENSP00000342559.5:n.1870-722G=
ENST00000400366.5:c.2004G= ENSP00000383217.3:p.Trp668=
ENST00000400366.6:c.2004G= ENSP00000383217.3:p.Trp668=
ENST00000400370.8:c.1286-8168G= ENSP00000383221.3:n.1286-8168G=
ENST00000418097.7:c.2337G= ENSP00000393343.2:p.Trp779=
ENST00000448424.6:c.2122-722G= ENSP00000416738.2:n.2122-722G=
ENST00000448424.7:c.2085G= ENSP00000416738.3:p.Trp695=
ENST00000634296.1:c.298G=
ENST00000634296.2:c.*170G= ENSP00000489512.2:n.*170G=
ENST00000634308.1:c.2122-722G= ENSP00000489234.1:n.2122-722G=
ENST00000634620.1:n.2432G=
ENST00000634810.1:n.1682G=
ENST00000634844.1:c.2193G= ENSP00000489398.1:p.Trp731=
ENST00000635406.1:n.212-11851G=
ENST00000673772.1:c.2122-722G= ENSP00000501168.1:n.2122-722G=
ENST00000673864.2:c.*1081G= ENSP00000501045.2:n.*1081G=
ENST00000674147.1:c.1426-722G= ENSP00000500964.1:n.1426-722G=
ENST00000674147.2:c.1870-722G= ENSP00000500964.2:n.1870-722G=
XM_005266423.2:c.2241G= XP_005266480.1:p.Trp747=
XM_005266424.3:c.2241G= XP_005266481.1:p.Trp747=
XM_005266424.4:c.2241G= XP_005266481.1:p.Trp747=
XM_005266427.2:c.2122-722G= XP_005266484.1:n.2122-722G=
XM_005266428.1:c.2085G= XP_005266485.1:p.Trp695=
XM_005266430.3:c.2337G= XP_005266487.1:p.Trp779=
XM_005266430.4:c.2337G= XP_005266487.1:p.Trp779=
XM_005266431.2:c.2301G= XP_005266488.1:p.Trp767=
XM_005266431.4:c.2301G= XP_005266488.1:p.Trp767=
XM_005266432.2:c.1870-722G= XP_005266489.1:n.1870-722G=
XM_006719837.2:c.2241G= XP_006719900.1:p.Trp747=
XM_006719837.3:c.2241G= XP_006719900.1:p.Trp747=
XM_006719838.1:c.153G= XP_006719901.1:p.Trp51=
XM_006719839.1:c.153G= XP_006719902.1:p.Trp51=
XM_011535117.1:c.2241G= XP_011533419.1:p.Trp747=
XM_011535117.3:c.2241G= XP_011533419.1:p.Trp747=
XM_011535118.1:c.2337G= XP_011533420.1:p.Trp779=
XM_011535119.1:c.2337G= XP_011533421.1:p.Trp779=
XM_011535120.1:c.1923G= XP_011533422.1:p.Trp641=
XM_011535121.1:c.2337G= XP_011533423.1:p.Trp779=
XM_011535122.1:c.1005G= XP_011533424.1:p.Trp335=
XM_017020627.1:c.2241G= XP_016876116.1:p.Trp747=
XR_941601.1:n.2556G=
XR_941602.1:n.2556G=
XR_941603.1:n.2556G=
XR_941604.1:n.2556G=