Canonical Allele Identifier: CA250073357
Community Standard Title: NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937332C>G , CM000675.2:g.51937332C>G GRCh38
NC_000013.10:g.52511468C>G , CM000675.1:g.52511468C>G GRCh37
NC_000013.9:g.51409469C>G NCBI36
NG_008806.1:g.79163G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3965G>C MANE Select NP_000044.2:p.Arg1322Pro
ENST00000242839.10:c.3965G>C MANE Select ENSP00000242839.5:p.Arg1322Pro
NM_000053.3:c.3965G>C NP_000044.2:p.Arg1322Pro
NM_001005918.2:c.3344G>C NP_001005918.1:p.Arg1115Pro
NM_001005918.3:c.3344G>C NP_001005918.1:p.Arg1115Pro
NM_001243182.1:c.3632G>C NP_001230111.1:p.Arg1211Pro
NM_001243182.2:c.3632G>C NP_001230111.1:p.Arg1211Pro
NM_001330578.1:c.3731G>C NP_001317507.1:p.Arg1244Pro
NM_001330578.2:c.3731G>C NP_001317507.1:p.Arg1244Pro
NM_001330579.1:c.3713G>C NP_001317508.1:p.Arg1238Pro
NM_001330579.2:c.3713G>C NP_001317508.1:p.Arg1238Pro
ENST00000242839.8:c.3965G>C ENSP00000242839.4:p.Arg1322Pro
ENST00000344297.8:c.3344G>C ENSP00000342559.5:p.Arg1115Pro
ENST00000344297.9:c.3344G>C ENSP00000342559.5:p.Arg1115Pro
ENST00000400366.5:c.3632G>C ENSP00000383217.3:p.Arg1211Pro
ENST00000400366.6:c.3632G>C ENSP00000383217.3:p.Arg1211Pro
ENST00000400370.8:c.2675G>C ENSP00000383221.3:p.Arg892Pro
ENST00000418097.7:c.3770G>C ENSP00000393343.2:p.Arg1257Pro
ENST00000448424.6:c.3731G>C ENSP00000416738.2:p.Arg1244Pro
ENST00000448424.7:c.3713G>C ENSP00000416738.3:p.Arg1238Pro
ENST00000634296.1:c.1743G>C
ENST00000634296.2:c.*1615G>C ENSP00000489512.2:n.*1615G>C
ENST00000634308.1:c.*1066G>C ENSP00000489234.1:n.*1066G>C
ENST00000634620.1:n.4709G>C
ENST00000634810.1:n.3310G>C
ENST00000634844.1:c.3821G>C ENSP00000489398.1:p.Arg1274Pro
ENST00000673696.1:n.1288G>C
ENST00000673772.1:c.3731G>C ENSP00000501168.1:p.Arg1244Pro
ENST00000673864.2:c.*2709G>C ENSP00000501045.2:n.*2709G>C
ENST00000673867.1:n.4104G>C
ENST00000673923.1:n.831G>C
ENST00000674147.1:c.2900G>C ENSP00000500964.1:p.Arg967Pro
ENST00000674147.2:c.3344G>C ENSP00000500964.2:p.Arg1115Pro
XM_005266423.2:c.3869G>C XP_005266480.1:p.Arg1290Pro
XM_005266424.3:c.3869G>C XP_005266481.1:p.Arg1290Pro
XM_005266424.4:c.3869G>C XP_005266481.1:p.Arg1290Pro
XM_005266427.2:c.3731G>C XP_005266484.1:p.Arg1244Pro
XM_005266428.1:c.3713G>C XP_005266485.1:p.Arg1238Pro
XM_005266430.3:c.3965G>C XP_005266487.1:p.Arg1322Pro
XM_005266430.4:c.3965G>C XP_005266487.1:p.Arg1322Pro
XM_005266431.2:c.3929G>C XP_005266488.1:p.Arg1310Pro
XM_005266431.4:c.3929G>C XP_005266488.1:p.Arg1310Pro
XM_005266432.2:c.3479G>C XP_005266489.1:p.Arg1160Pro
XM_006719837.2:c.3869G>C XP_006719900.1:p.Arg1290Pro
XM_006719837.3:c.3869G>C XP_006719900.1:p.Arg1290Pro
XM_006719838.1:c.1781G>C XP_006719901.1:p.Arg594Pro
XM_006719839.1:c.1598G>C XP_006719902.1:p.Arg533Pro
XM_011535117.1:c.3869G>C XP_011533419.1:p.Arg1290Pro
XM_011535117.3:c.3869G>C XP_011533419.1:p.Arg1290Pro
XM_011535118.1:c.3830G>C XP_011533420.1:p.Arg1277Pro
XM_011535119.1:c.3782G>C XP_011533421.1:p.Arg1261Pro
XM_011535120.1:c.3551G>C XP_011533422.1:p.Arg1184Pro
XM_011535121.1:c.3452G>C XP_011533423.1:p.Arg1151Pro
XM_011535122.1:c.2633G>C XP_011533424.1:p.Arg878Pro
XM_017020627.1:c.3869G>C XP_016876116.1:p.Arg1290Pro
XR_941601.1:n.4184G>C
XR_941602.1:n.4184G>C
XR_941603.1:n.4184G>C
XR_941604.1:n.4184G>C