Canonical Allele Identifier: CA1732870666

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931476C= , CM000669.2:g.107931476C= GRCh38
NC_000007.13:g.107571921C= , CM000669.1:g.107571921C= GRCh37
NC_000007.12:g.107359157C= NCBI36
NG_023255.1:g.76884G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4417G= (LAMB1) MANE Select ENSP00000222399.6:p.Asp1473=
ENST00000393561.6:c.4006G= (LAMB1) ENSP00000377191.2:p.Asp1336=
ENST00000468518.2:n.2651G= (LAMB1)
ENST00000468999.2:n.2565G= (LAMB1)
ENST00000474380.2:n.1232G= (LAMB1)
ENST00000676574.1:c.*333G= (LAMB1) ENSP00000503081.1:n.*333G=
ENST00000676744.1:n.263G= (LAMB1)
ENST00000676777.1:c.4417G= (LAMB1) ENSP00000504756.1:p.Asp1473=
ENST00000677101.1:c.*4053G= (LAMB1) ENSP00000503156.1:n.*4053G=
ENST00000677144.1:c.*1236G= (LAMB1) ENSP00000503049.1:n.*1236G=
ENST00000677485.1:n.5641G= (LAMB1)
ENST00000677588.1:c.*648G= (LAMB1) ENSP00000502938.1:n.*648G=
ENST00000677793.1:c.4105G= (LAMB1) ENSP00000504020.1:p.Asp1369=
ENST00000677801.1:c.*246G= (LAMB1) ENSP00000503438.1:n.*246G=
ENST00000678232.1:n.4606G= (LAMB1)
ENST00000678310.1:n.2586G= (LAMB1)
ENST00000678698.1:c.*489G= (LAMB1) ENSP00000503198.1:n.*489G=
ENST00000678704.1:c.*2999G= (LAMB1) ENSP00000504589.1:n.*2999G=
ENST00000678892.1:c.*489G= (LAMB1) ENSP00000504841.1:n.*489G=
ENST00000679200.1:c.*489G= (LAMB1) ENSP00000503498.1:n.*489G=
ENST00000222399.10:c.4417G= (LAMB1) ENSP00000222399.6:p.Asp1473=
ENST00000393561.5:c.4489G= (LAMB1) ENSP00000377191.1:p.Asp1497=
ENST00000417551.5:c.*170C= (DLD) ENSP00000390667.1:n.*170C=
ENST00000468518.1:n.476G= (LAMB1)
ENST00000474380.1:n.654G= (LAMB1)
NM_002291.2:c.4417G= (LAMB1) NP_002282.2:p.Asp1473=
XM_017012201.1:c.4489G= (LAMB1) XP_016867690.1:p.Asp1497=
XR_001744756.1:n.5336G= (LAMB1)
NM_002291.3:c.4417G= (LAMB1) MANE Select NP_002282.2:p.Asp1473=