Canonical Allele Identifier: CA1732870657

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931469G= , CM000669.2:g.107931469G= GRCh38
NC_000007.13:g.107571914G= , CM000669.1:g.107571914G= GRCh37
NC_000007.12:g.107359150G= NCBI36
NG_023255.1:g.76891C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4424C= (LAMB1) MANE Select ENSP00000222399.6:p.Ala1475=
ENST00000393561.6:c.4013C= (LAMB1) ENSP00000377191.2:p.Ala1338=
ENST00000468518.2:n.2658C= (LAMB1)
ENST00000468999.2:n.2572C= (LAMB1)
ENST00000474380.2:n.1239C= (LAMB1)
ENST00000676574.1:c.*340C= (LAMB1) ENSP00000503081.1:n.*340C=
ENST00000676744.1:n.270C= (LAMB1)
ENST00000676777.1:c.4424C= (LAMB1) ENSP00000504756.1:p.Ala1475=
ENST00000677101.1:c.*4060C= (LAMB1) ENSP00000503156.1:n.*4060C=
ENST00000677144.1:c.*1243C= (LAMB1) ENSP00000503049.1:n.*1243C=
ENST00000677485.1:n.5648C= (LAMB1)
ENST00000677588.1:c.*655C= (LAMB1) ENSP00000502938.1:n.*655C=
ENST00000677793.1:c.4112C= (LAMB1) ENSP00000504020.1:p.Ala1371=
ENST00000677801.1:c.*253C= (LAMB1) ENSP00000503438.1:n.*253C=
ENST00000678232.1:n.4613C= (LAMB1)
ENST00000678310.1:n.2593C= (LAMB1)
ENST00000678698.1:c.*496C= (LAMB1) ENSP00000503198.1:n.*496C=
ENST00000678704.1:c.*3006C= (LAMB1) ENSP00000504589.1:n.*3006C=
ENST00000678892.1:c.*496C= (LAMB1) ENSP00000504841.1:n.*496C=
ENST00000679200.1:c.*496C= (LAMB1) ENSP00000503498.1:n.*496C=
ENST00000222399.10:c.4424C= (LAMB1) ENSP00000222399.6:p.Ala1475=
ENST00000393561.5:c.4496C= (LAMB1) ENSP00000377191.1:p.Ala1499=
ENST00000417551.5:c.*163G= (DLD) ENSP00000390667.1:n.*163G=
ENST00000468518.1:n.483C= (LAMB1)
ENST00000474380.1:n.661C= (LAMB1)
NM_002291.2:c.4424C= (LAMB1) NP_002282.2:p.Ala1475=
XM_017012201.1:c.4496C= (LAMB1) XP_016867690.1:p.Ala1499=
XR_001744756.1:n.5343C= (LAMB1)
NM_002291.3:c.4424C= (LAMB1) MANE Select NP_002282.2:p.Ala1475=