Canonical Allele Identifier: CA1732870623

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931452C= , CM000669.2:g.107931452C= GRCh38
NC_000007.13:g.107571897C= , CM000669.1:g.107571897C= GRCh37
NC_000007.12:g.107359133C= NCBI36
NG_023255.1:g.76908G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4441G= (LAMB1) MANE Select ENSP00000222399.6:p.Asp1481=
ENST00000393561.6:c.4030G= (LAMB1) ENSP00000377191.2:p.Asp1344=
ENST00000468518.2:n.2675G= (LAMB1)
ENST00000468999.2:n.2589G= (LAMB1)
ENST00000474380.2:n.1256G= (LAMB1)
ENST00000676574.1:c.*357G= (LAMB1) ENSP00000503081.1:n.*357G=
ENST00000676744.1:n.287G= (LAMB1)
ENST00000676777.1:c.4441G= (LAMB1) ENSP00000504756.1:p.Asp1481=
ENST00000677101.1:c.*4077G= (LAMB1) ENSP00000503156.1:n.*4077G=
ENST00000677144.1:c.*1260G= (LAMB1) ENSP00000503049.1:n.*1260G=
ENST00000677485.1:n.5665G= (LAMB1)
ENST00000677588.1:c.*672G= (LAMB1) ENSP00000502938.1:n.*672G=
ENST00000677793.1:c.4129G= (LAMB1) ENSP00000504020.1:p.Asp1377=
ENST00000677801.1:c.*270G= (LAMB1) ENSP00000503438.1:n.*270G=
ENST00000678232.1:n.4630G= (LAMB1)
ENST00000678310.1:n.2610G= (LAMB1)
ENST00000678698.1:c.*513G= (LAMB1) ENSP00000503198.1:n.*513G=
ENST00000678704.1:c.*3023G= (LAMB1) ENSP00000504589.1:n.*3023G=
ENST00000678892.1:c.*513G= (LAMB1) ENSP00000504841.1:n.*513G=
ENST00000679200.1:c.*513G= (LAMB1) ENSP00000503498.1:n.*513G=
ENST00000222399.10:c.4441G= (LAMB1) ENSP00000222399.6:p.Asp1481=
ENST00000393561.5:c.4513G= (LAMB1) ENSP00000377191.1:p.Asp1505=
ENST00000417551.5:c.*146C= (DLD) ENSP00000390667.1:n.*146C=
ENST00000468518.1:n.500G= (LAMB1)
ENST00000474380.1:n.678G= (LAMB1)
NM_002291.2:c.4441G= (LAMB1) NP_002282.2:p.Asp1481=
XM_017012201.1:c.4513G= (LAMB1) XP_016867690.1:p.Asp1505=
XR_001744756.1:n.5360G= (LAMB1)
NM_002291.3:c.4441G= (LAMB1) MANE Select NP_002282.2:p.Asp1481=