Canonical Allele Identifier: CA388020160
Community Standard Title: NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51935654C>T , CM000675.2:g.51935654C>T GRCh38
NC_000013.10:g.52509790C>T , CM000675.1:g.52509790C>T GRCh37
NC_000013.9:g.51407791C>T NCBI36
NG_008806.1:g.80841G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4063G>A MANE Select NP_000044.2:p.Gly1355Ser
ENST00000242839.10:c.4063G>A MANE Select ENSP00000242839.5:p.Gly1355Ser
NM_000053.3:c.4063G>A NP_000044.2:p.Gly1355Ser
NM_001005918.2:c.3442G>A NP_001005918.1:p.Gly1148Ser
NM_001005918.3:c.3442G>A NP_001005918.1:p.Gly1148Ser
NM_001243182.1:c.3730G>A NP_001230111.1:p.Gly1244Ser
NM_001243182.2:c.3730G>A NP_001230111.1:p.Gly1244Ser
NM_001330578.1:c.3829G>A NP_001317507.1:p.Gly1277Ser
NM_001330578.2:c.3829G>A NP_001317507.1:p.Gly1277Ser
NM_001330579.1:c.3811G>A NP_001317508.1:p.Gly1271Ser
NM_001330579.2:c.3811G>A NP_001317508.1:p.Gly1271Ser
ENST00000242839.8:c.4063G>A ENSP00000242839.4:p.Gly1355Ser
ENST00000344297.8:c.3442G>A ENSP00000342559.5:p.Gly1148Ser
ENST00000344297.9:c.3442G>A ENSP00000342559.5:p.Gly1148Ser
ENST00000400366.5:c.3730G>A ENSP00000383217.3:p.Gly1244Ser
ENST00000400366.6:c.3730G>A ENSP00000383217.3:p.Gly1244Ser
ENST00000400370.8:c.2773G>A ENSP00000383221.3:p.Gly925Ser
ENST00000418097.7:c.3868G>A ENSP00000393343.2:p.Gly1290Ser
ENST00000448424.6:c.3829G>A ENSP00000416738.2:p.Gly1277Ser
ENST00000448424.7:c.3811G>A ENSP00000416738.3:p.Gly1271Ser
ENST00000634296.1:c.1841G>A
ENST00000634296.2:c.*1713G>A ENSP00000489512.2:n.*1713G>A
ENST00000634308.1:c.*1164G>A ENSP00000489234.1:n.*1164G>A
ENST00000634620.1:n.4807G>A
ENST00000634810.1:n.3408G>A
ENST00000634844.1:c.3919G>A ENSP00000489398.1:p.Gly1307Ser
ENST00000673696.1:n.1386G>A
ENST00000673772.1:c.3829G>A ENSP00000501168.1:p.Gly1277Ser
ENST00000673864.2:c.*2807G>A ENSP00000501045.2:n.*2807G>A
ENST00000673867.1:n.4202G>A
ENST00000673923.1:n.929G>A
ENST00000674147.1:c.2998G>A ENSP00000500964.1:p.Gly1000Ser
ENST00000674147.2:c.3442G>A ENSP00000500964.2:p.Gly1148Ser
XM_005266423.2:c.3967G>A XP_005266480.1:p.Gly1323Ser
XM_005266424.3:c.3967G>A XP_005266481.1:p.Gly1323Ser
XM_005266424.4:c.3967G>A XP_005266481.1:p.Gly1323Ser
XM_005266427.2:c.3829G>A XP_005266484.1:p.Gly1277Ser
XM_005266428.1:c.3811G>A XP_005266485.1:p.Gly1271Ser
XM_005266430.3:c.4063G>A XP_005266487.1:p.Gly1355Ser
XM_005266430.4:c.4063G>A XP_005266487.1:p.Gly1355Ser
XM_005266431.2:c.4027G>A XP_005266488.1:p.Gly1343Ser
XM_005266431.4:c.4027G>A XP_005266488.1:p.Gly1343Ser
XM_005266432.2:c.3577G>A XP_005266489.1:p.Gly1193Ser
XM_006719837.2:c.3967G>A XP_006719900.1:p.Gly1323Ser
XM_006719837.3:c.3967G>A XP_006719900.1:p.Gly1323Ser
XM_006719838.1:c.1879G>A XP_006719901.1:p.Gly627Ser
XM_006719839.1:c.1696G>A XP_006719902.1:p.Gly566Ser
XM_011535117.1:c.3967G>A XP_011533419.1:p.Gly1323Ser
XM_011535117.3:c.3967G>A XP_011533419.1:p.Gly1323Ser
XM_011535118.1:c.3928G>A XP_011533420.1:p.Gly1310Ser
XM_011535119.1:c.3880G>A XP_011533421.1:p.Gly1294Ser
XM_011535120.1:c.3649G>A XP_011533422.1:p.Gly1217Ser
XM_011535121.1:c.3550G>A XP_011533423.1:p.Gly1184Ser
XM_011535122.1:c.2731G>A XP_011533424.1:p.Gly911Ser
XM_017020627.1:c.3967G>A XP_016876116.1:p.Gly1323Ser
XR_941601.1:n.4282G>A
XR_941602.1:n.4282G>A
XR_941603.1:n.4282G>A
XR_941604.1:n.4282G>A