Canonical Allele Identifier: CA388021893
Community Standard Title: NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937561G>T , CM000675.2:g.51937561G>T GRCh38
NC_000013.10:g.52511697G>T , CM000675.1:g.52511697G>T GRCh37
NC_000013.9:g.51409698G>T NCBI36
NG_008806.1:g.78934C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3818C>A MANE Select NP_000044.2:p.Pro1273Gln
ENST00000242839.10:c.3818C>A MANE Select ENSP00000242839.5:p.Pro1273Gln
NM_000053.3:c.3818C>A NP_000044.2:p.Pro1273Gln
NM_001005918.2:c.3197C>A NP_001005918.1:p.Pro1066Gln
NM_001005918.3:c.3197C>A NP_001005918.1:p.Pro1066Gln
NM_001243182.1:c.3485C>A NP_001230111.1:p.Pro1162Gln
NM_001243182.2:c.3485C>A NP_001230111.1:p.Pro1162Gln
NM_001330578.1:c.3584C>A NP_001317507.1:p.Pro1195Gln
NM_001330578.2:c.3584C>A NP_001317507.1:p.Pro1195Gln
NM_001330579.1:c.3566C>A NP_001317508.1:p.Pro1189Gln
NM_001330579.2:c.3566C>A NP_001317508.1:p.Pro1189Gln
ENST00000242839.8:c.3818C>A ENSP00000242839.4:p.Pro1273Gln
ENST00000344297.8:c.3197C>A ENSP00000342559.5:p.Pro1066Gln
ENST00000344297.9:c.3197C>A ENSP00000342559.5:p.Pro1066Gln
ENST00000400366.5:c.3485C>A ENSP00000383217.3:p.Pro1162Gln
ENST00000400366.6:c.3485C>A ENSP00000383217.3:p.Pro1162Gln
ENST00000400370.8:c.2528C>A ENSP00000383221.3:p.Pro843Gln
ENST00000418097.7:c.3623C>A ENSP00000393343.2:p.Pro1208Gln
ENST00000448424.6:c.3584C>A ENSP00000416738.2:p.Pro1195Gln
ENST00000448424.7:c.3566C>A ENSP00000416738.3:p.Pro1189Gln
ENST00000634296.1:c.1596C>A
ENST00000634296.2:c.*1468C>A ENSP00000489512.2:n.*1468C>A
ENST00000634308.1:c.*919C>A ENSP00000489234.1:n.*919C>A
ENST00000634620.1:n.4562C>A
ENST00000634810.1:n.3163C>A
ENST00000634844.1:c.3674C>A ENSP00000489398.1:p.Pro1225Gln
ENST00000673696.1:n.1059C>A
ENST00000673772.1:c.3584C>A ENSP00000501168.1:p.Pro1195Gln
ENST00000673864.2:c.*2562C>A ENSP00000501045.2:n.*2562C>A
ENST00000673867.1:n.3957C>A
ENST00000673923.1:n.684C>A
ENST00000674147.1:c.2753C>A ENSP00000500964.1:p.Pro918Gln
ENST00000674147.2:c.3197C>A ENSP00000500964.2:p.Pro1066Gln
XM_005266423.2:c.3722C>A XP_005266480.1:p.Pro1241Gln
XM_005266424.3:c.3722C>A XP_005266481.1:p.Pro1241Gln
XM_005266424.4:c.3722C>A XP_005266481.1:p.Pro1241Gln
XM_005266427.2:c.3584C>A XP_005266484.1:p.Pro1195Gln
XM_005266428.1:c.3566C>A XP_005266485.1:p.Pro1189Gln
XM_005266430.3:c.3818C>A XP_005266487.1:p.Pro1273Gln
XM_005266430.4:c.3818C>A XP_005266487.1:p.Pro1273Gln
XM_005266431.2:c.3782C>A XP_005266488.1:p.Pro1261Gln
XM_005266431.4:c.3782C>A XP_005266488.1:p.Pro1261Gln
XM_005266432.2:c.3332C>A XP_005266489.1:p.Pro1111Gln
XM_006719837.2:c.3722C>A XP_006719900.1:p.Pro1241Gln
XM_006719837.3:c.3722C>A XP_006719900.1:p.Pro1241Gln
XM_006719838.1:c.1634C>A XP_006719901.1:p.Pro545Gln
XM_006719839.1:c.1451C>A XP_006719902.1:p.Pro484Gln
XM_011535117.1:c.3722C>A XP_011533419.1:p.Pro1241Gln
XM_011535117.3:c.3722C>A XP_011533419.1:p.Pro1241Gln
XM_011535118.1:c.3683C>A XP_011533420.1:p.Pro1228Gln
XM_011535119.1:c.3635C>A XP_011533421.1:p.Pro1212Gln
XM_011535120.1:c.3404C>A XP_011533422.1:p.Pro1135Gln
XM_011535121.1:c.3305C>A XP_011533423.1:p.Pro1102Gln
XM_011535122.1:c.2486C>A XP_011533424.1:p.Pro829Gln
XM_017020627.1:c.3722C>A XP_016876116.1:p.Pro1241Gln
XR_941601.1:n.4037C>A
XR_941602.1:n.4037C>A
XR_941603.1:n.4037C>A
XR_941604.1:n.4037C>A