Canonical Allele Identifier: CA1732870527

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931381G= , CM000669.2:g.107931381G= GRCh38
NC_000007.13:g.107571826G= , CM000669.1:g.107571826G= GRCh37
NC_000007.12:g.107359062G= NCBI36
NG_023255.1:g.76979C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4512C= (LAMB1) MANE Select ENSP00000222399.6:p.Ile1504=
ENST00000393561.6:c.4101C= (LAMB1) ENSP00000377191.2:p.Ile1367=
ENST00000468518.2:n.2746C= (LAMB1)
ENST00000468999.2:n.2660C= (LAMB1)
ENST00000474380.2:n.1327C= (LAMB1)
ENST00000676574.1:c.*428C= (LAMB1) ENSP00000503081.1:n.*428C=
ENST00000676744.1:n.358C= (LAMB1)
ENST00000676777.1:c.4512C= (LAMB1) ENSP00000504756.1:p.Ile1504=
ENST00000677101.1:c.*4148C= (LAMB1) ENSP00000503156.1:n.*4148C=
ENST00000677144.1:c.*1331C= (LAMB1) ENSP00000503049.1:n.*1331C=
ENST00000677485.1:n.5736C= (LAMB1)
ENST00000677588.1:c.*743C= (LAMB1) ENSP00000502938.1:n.*743C=
ENST00000677793.1:c.4200C= (LAMB1) ENSP00000504020.1:p.Ile1400=
ENST00000677801.1:c.*341C= (LAMB1) ENSP00000503438.1:n.*341C=
ENST00000677883.1:n.23C= (LAMB1)
ENST00000678232.1:n.4701C= (LAMB1)
ENST00000678310.1:n.2681C= (LAMB1)
ENST00000678698.1:c.*584C= (LAMB1) ENSP00000503198.1:n.*584C=
ENST00000678704.1:c.*3094C= (LAMB1) ENSP00000504589.1:n.*3094C=
ENST00000678892.1:c.*584C= (LAMB1) ENSP00000504841.1:n.*584C=
ENST00000679200.1:c.*584C= (LAMB1) ENSP00000503498.1:n.*584C=
ENST00000222399.10:c.4512C= (LAMB1) ENSP00000222399.6:p.Ile1504=
ENST00000393561.5:c.4584C= (LAMB1) ENSP00000377191.1:p.Ile1528=
ENST00000417551.5:c.*125-50G= (DLD) ENSP00000390667.1:n.*125-50G=
ENST00000468518.1:n.571C= (LAMB1)
ENST00000474380.1:n.749C= (LAMB1)
NM_002291.2:c.4512C= (LAMB1) NP_002282.2:p.Ile1504=
XM_017012201.1:c.4584C= (LAMB1) XP_016867690.1:p.Ile1528=
XR_001744756.1:n.5431C= (LAMB1)
NM_002291.3:c.4512C= (LAMB1) MANE Select NP_002282.2:p.Ile1504=