Canonical Allele Identifier: CA388032231
Community Standard Title: NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946373T>C , CM000675.2:g.51946373T>C GRCh38
NC_000013.10:g.52520509T>C , CM000675.1:g.52520509T>C GRCh37
NC_000013.9:g.51418510T>C NCBI36
NG_008806.1:g.70122A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2971A>G MANE Select NP_000044.2:p.Thr991Ala
ENST00000242839.10:c.2971A>G MANE Select ENSP00000242839.5:p.Thr991Ala
NM_000053.3:c.2971A>G NP_000044.2:p.Thr991Ala
NM_001005918.2:c.2350A>G NP_001005918.1:p.Thr784Ala
NM_001005918.3:c.2350A>G NP_001005918.1:p.Thr784Ala
NM_001243182.1:c.2638A>G NP_001230111.1:p.Thr880Ala
NM_001243182.2:c.2638A>G NP_001230111.1:p.Thr880Ala
NM_001330578.1:c.2737A>G NP_001317507.1:p.Thr913Ala
NM_001330578.2:c.2737A>G NP_001317507.1:p.Thr913Ala
NM_001330579.1:c.2719A>G NP_001317508.1:p.Thr907Ala
NM_001330579.2:c.2719A>G NP_001317508.1:p.Thr907Ala
ENST00000242839.8:c.2971A>G ENSP00000242839.4:p.Thr991Ala
ENST00000344297.8:c.2350A>G ENSP00000342559.5:p.Thr784Ala
ENST00000344297.9:c.2350A>G ENSP00000342559.5:p.Thr784Ala
ENST00000400366.5:c.2638A>G ENSP00000383217.3:p.Thr880Ala
ENST00000400366.6:c.2638A>G ENSP00000383217.3:p.Thr880Ala
ENST00000400370.8:c.1681A>G ENSP00000383221.3:p.Thr561Ala
ENST00000418097.7:c.2866-2082A>G ENSP00000393343.2:n.2866-2082A>G
ENST00000448424.6:c.2737A>G ENSP00000416738.2:p.Thr913Ala
ENST00000448424.7:c.2719A>G ENSP00000416738.3:p.Thr907Ala
ENST00000466629.1:n.191A>G
ENST00000634296.1:c.932A>G
ENST00000634296.2:c.*804A>G ENSP00000489512.2:n.*804A>G
ENST00000634308.1:c.*72A>G ENSP00000489234.1:n.*72A>G
ENST00000634620.1:n.3715A>G
ENST00000634810.1:n.2316A>G
ENST00000634844.1:c.2827A>G ENSP00000489398.1:p.Thr943Ala
ENST00000635406.1:n.317A>G
ENST00000673772.1:c.2737A>G ENSP00000501168.1:p.Thr913Ala
ENST00000673864.2:c.*1715A>G ENSP00000501045.2:n.*1715A>G
ENST00000673867.1:n.1118A>G
ENST00000674126.1:n.3334A>G
ENST00000674147.1:c.1906A>G ENSP00000500964.1:p.Thr636Ala
ENST00000674147.2:c.2350A>G ENSP00000500964.2:p.Thr784Ala
XM_005266423.2:c.2875A>G XP_005266480.1:p.Thr959Ala
XM_005266424.3:c.2875A>G XP_005266481.1:p.Thr959Ala
XM_005266424.4:c.2875A>G XP_005266481.1:p.Thr959Ala
XM_005266427.2:c.2737A>G XP_005266484.1:p.Thr913Ala
XM_005266428.1:c.2719A>G XP_005266485.1:p.Thr907Ala
XM_005266430.3:c.2971A>G XP_005266487.1:p.Thr991Ala
XM_005266430.4:c.2971A>G XP_005266487.1:p.Thr991Ala
XM_005266431.2:c.2935A>G XP_005266488.1:p.Thr979Ala
XM_005266431.4:c.2935A>G XP_005266488.1:p.Thr979Ala
XM_005266432.2:c.2485A>G XP_005266489.1:p.Thr829Ala
XM_006719837.2:c.2875A>G XP_006719900.1:p.Thr959Ala
XM_006719837.3:c.2875A>G XP_006719900.1:p.Thr959Ala
XM_006719838.1:c.787A>G XP_006719901.1:p.Thr263Ala
XM_006719839.1:c.787A>G XP_006719902.1:p.Thr263Ala
XM_011535117.1:c.2875A>G XP_011533419.1:p.Thr959Ala
XM_011535117.3:c.2875A>G XP_011533419.1:p.Thr959Ala
XM_011535118.1:c.2836A>G XP_011533420.1:p.Thr946Ala
XM_011535119.1:c.2971A>G XP_011533421.1:p.Thr991Ala
XM_011535120.1:c.2557A>G XP_011533422.1:p.Thr853Ala
XM_011535121.1:c.2730+3634A>G XP_011533423.1:n.2730+3634A>G
XM_011535122.1:c.1639A>G XP_011533424.1:p.Thr547Ala
XM_017020627.1:c.2875A>G XP_016876116.1:p.Thr959Ala
XR_941601.1:n.3190A>G
XR_941602.1:n.3190A>G
XR_941603.1:n.3190A>G
XR_941604.1:n.3190A>G