Canonical Allele Identifier: CA6988608
Community Standard Title: NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51939056T>G , CM000675.2:g.51939056T>G GRCh38
NC_000013.10:g.52513192T>G , CM000675.1:g.52513192T>G GRCh37
NC_000013.9:g.51411193T>G NCBI36
NG_008806.1:g.77439A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3694A>C MANE Select NP_000044.2:p.Thr1232Pro
ENST00000242839.10:c.3694A>C MANE Select ENSP00000242839.5:p.Thr1232Pro
NM_000053.3:c.3694A>C NP_000044.2:p.Thr1232Pro
NM_001005918.2:c.3073A>C NP_001005918.1:p.Thr1025Pro
NM_001005918.3:c.3073A>C NP_001005918.1:p.Thr1025Pro
NM_001243182.1:c.3361A>C NP_001230111.1:p.Thr1121Pro
NM_001243182.2:c.3361A>C NP_001230111.1:p.Thr1121Pro
NM_001330578.1:c.3460A>C NP_001317507.1:p.Thr1154Pro
NM_001330578.2:c.3460A>C NP_001317507.1:p.Thr1154Pro
NM_001330579.1:c.3442A>C NP_001317508.1:p.Thr1148Pro
NM_001330579.2:c.3442A>C NP_001317508.1:p.Thr1148Pro
ENST00000242839.8:c.3694A>C ENSP00000242839.4:p.Thr1232Pro
ENST00000344297.8:c.3073A>C ENSP00000342559.5:p.Thr1025Pro
ENST00000344297.9:c.3073A>C ENSP00000342559.5:p.Thr1025Pro
ENST00000400366.5:c.3361A>C ENSP00000383217.3:p.Thr1121Pro
ENST00000400366.6:c.3361A>C ENSP00000383217.3:p.Thr1121Pro
ENST00000400370.8:c.2404A>C ENSP00000383221.3:p.Thr802Pro
ENST00000418097.7:c.3499A>C ENSP00000393343.2:p.Thr1167Pro
ENST00000448424.6:c.3460A>C ENSP00000416738.2:p.Thr1154Pro
ENST00000448424.7:c.3442A>C ENSP00000416738.3:p.Thr1148Pro
ENST00000634296.1:c.1472A>C
ENST00000634296.2:c.*1344A>C ENSP00000489512.2:n.*1344A>C
ENST00000634308.1:c.*795A>C ENSP00000489234.1:n.*795A>C
ENST00000634620.1:n.4438A>C
ENST00000634810.1:n.3039A>C
ENST00000634844.1:c.3550A>C ENSP00000489398.1:p.Thr1184Pro
ENST00000673696.1:n.935A>C
ENST00000673772.1:c.3460A>C ENSP00000501168.1:p.Thr1154Pro
ENST00000673864.2:c.*2438A>C ENSP00000501045.2:n.*2438A>C
ENST00000673867.1:n.3833A>C
ENST00000673923.1:n.560A>C
ENST00000674147.1:c.2629A>C ENSP00000500964.1:p.Thr877Pro
ENST00000674147.2:c.3073A>C ENSP00000500964.2:p.Thr1025Pro
XM_005266423.2:c.3598A>C XP_005266480.1:p.Thr1200Pro
XM_005266424.3:c.3598A>C XP_005266481.1:p.Thr1200Pro
XM_005266424.4:c.3598A>C XP_005266481.1:p.Thr1200Pro
XM_005266427.2:c.3460A>C XP_005266484.1:p.Thr1154Pro
XM_005266428.1:c.3442A>C XP_005266485.1:p.Thr1148Pro
XM_005266430.3:c.3694A>C XP_005266487.1:p.Thr1232Pro
XM_005266430.4:c.3694A>C XP_005266487.1:p.Thr1232Pro
XM_005266431.2:c.3658A>C XP_005266488.1:p.Thr1220Pro
XM_005266431.4:c.3658A>C XP_005266488.1:p.Thr1220Pro
XM_005266432.2:c.3208A>C XP_005266489.1:p.Thr1070Pro
XM_006719837.2:c.3598A>C XP_006719900.1:p.Thr1200Pro
XM_006719837.3:c.3598A>C XP_006719900.1:p.Thr1200Pro
XM_006719838.1:c.1510A>C XP_006719901.1:p.Thr504Pro
XM_006719839.1:c.1327A>C XP_006719902.1:p.Thr443Pro
XM_011535117.1:c.3598A>C XP_011533419.1:p.Thr1200Pro
XM_011535117.3:c.3598A>C XP_011533419.1:p.Thr1200Pro
XM_011535118.1:c.3559A>C XP_011533420.1:p.Thr1187Pro
XM_011535119.1:c.3511A>C XP_011533421.1:p.Thr1171Pro
XM_011535120.1:c.3280A>C XP_011533422.1:p.Thr1094Pro
XM_011535121.1:c.3181A>C XP_011533423.1:p.Thr1061Pro
XM_011535122.1:c.2362A>C XP_011533424.1:p.Thr788Pro
XM_017020627.1:c.3598A>C XP_016876116.1:p.Thr1200Pro
XR_941601.1:n.3913A>C
XR_941602.1:n.3913A>C
XR_941603.1:n.3913A>C
XR_941604.1:n.3913A>C