Canonical Allele Identifier: CA388031811
Community Standard Title: NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946300A>G , CM000675.2:g.51946300A>G GRCh38
NC_000013.10:g.52520436A>G , CM000675.1:g.52520436A>G GRCh37
NC_000013.9:g.51418437A>G NCBI36
NG_008806.1:g.70195T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3044T>C MANE Select NP_000044.2:p.Leu1015Pro
ENST00000242839.10:c.3044T>C MANE Select ENSP00000242839.5:p.Leu1015Pro
NM_000053.3:c.3044T>C NP_000044.2:p.Leu1015Pro
NM_001005918.2:c.2423T>C NP_001005918.1:p.Leu808Pro
NM_001005918.3:c.2423T>C NP_001005918.1:p.Leu808Pro
NM_001243182.1:c.2711T>C NP_001230111.1:p.Leu904Pro
NM_001243182.2:c.2711T>C NP_001230111.1:p.Leu904Pro
NM_001330578.1:c.2810T>C NP_001317507.1:p.Leu937Pro
NM_001330578.2:c.2810T>C NP_001317507.1:p.Leu937Pro
NM_001330579.1:c.2792T>C NP_001317508.1:p.Leu931Pro
NM_001330579.2:c.2792T>C NP_001317508.1:p.Leu931Pro
ENST00000242839.8:c.3044T>C ENSP00000242839.4:p.Leu1015Pro
ENST00000344297.8:c.2423T>C ENSP00000342559.5:p.Leu808Pro
ENST00000344297.9:c.2423T>C ENSP00000342559.5:p.Leu808Pro
ENST00000400366.5:c.2711T>C ENSP00000383217.3:p.Leu904Pro
ENST00000400366.6:c.2711T>C ENSP00000383217.3:p.Leu904Pro
ENST00000400370.8:c.1754T>C ENSP00000383221.3:p.Leu585Pro
ENST00000418097.7:c.2866-2009T>C ENSP00000393343.2:n.2866-2009T>C
ENST00000448424.6:c.2810T>C ENSP00000416738.2:p.Leu937Pro
ENST00000448424.7:c.2792T>C ENSP00000416738.3:p.Leu931Pro
ENST00000466629.1:n.264T>C
ENST00000634296.1:c.1005T>C
ENST00000634296.2:c.*877T>C ENSP00000489512.2:n.*877T>C
ENST00000634308.1:c.*145T>C ENSP00000489234.1:n.*145T>C
ENST00000634620.1:n.3788T>C
ENST00000634810.1:n.2389T>C
ENST00000634844.1:c.2900T>C ENSP00000489398.1:p.Leu967Pro
ENST00000635406.1:n.390T>C
ENST00000673772.1:c.2810T>C ENSP00000501168.1:p.Leu937Pro
ENST00000673864.2:c.*1788T>C ENSP00000501045.2:n.*1788T>C
ENST00000673867.1:n.1191T>C
ENST00000674126.1:n.3407T>C
ENST00000674147.1:c.1979T>C ENSP00000500964.1:p.Leu660Pro
ENST00000674147.2:c.2423T>C ENSP00000500964.2:p.Leu808Pro
XM_005266423.2:c.2948T>C XP_005266480.1:p.Leu983Pro
XM_005266424.3:c.2948T>C XP_005266481.1:p.Leu983Pro
XM_005266424.4:c.2948T>C XP_005266481.1:p.Leu983Pro
XM_005266427.2:c.2810T>C XP_005266484.1:p.Leu937Pro
XM_005266428.1:c.2792T>C XP_005266485.1:p.Leu931Pro
XM_005266430.3:c.3044T>C XP_005266487.1:p.Leu1015Pro
XM_005266430.4:c.3044T>C XP_005266487.1:p.Leu1015Pro
XM_005266431.2:c.3008T>C XP_005266488.1:p.Leu1003Pro
XM_005266431.4:c.3008T>C XP_005266488.1:p.Leu1003Pro
XM_005266432.2:c.2558T>C XP_005266489.1:p.Leu853Pro
XM_006719837.2:c.2948T>C XP_006719900.1:p.Leu983Pro
XM_006719837.3:c.2948T>C XP_006719900.1:p.Leu983Pro
XM_006719838.1:c.860T>C XP_006719901.1:p.Leu287Pro
XM_006719839.1:c.860T>C XP_006719902.1:p.Leu287Pro
XM_011535117.1:c.2948T>C XP_011533419.1:p.Leu983Pro
XM_011535117.3:c.2948T>C XP_011533419.1:p.Leu983Pro
XM_011535118.1:c.2909T>C XP_011533420.1:p.Leu970Pro
XM_011535119.1:c.3044T>C XP_011533421.1:p.Leu1015Pro
XM_011535120.1:c.2630T>C XP_011533422.1:p.Leu877Pro
XM_011535121.1:c.2730+3707T>C XP_011533423.1:n.2730+3707T>C
XM_011535122.1:c.1712T>C XP_011533424.1:p.Leu571Pro
XM_017020627.1:c.2948T>C XP_016876116.1:p.Leu983Pro
XR_941601.1:n.3263T>C
XR_941602.1:n.3263T>C
XR_941603.1:n.3263T>C
XR_941604.1:n.3263T>C