Canonical Allele Identifier: CA1732870631

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931459A= , CM000669.2:g.107931459A= GRCh38
NC_000007.13:g.107571904A= , CM000669.1:g.107571904A= GRCh37
NC_000007.12:g.107359140A= NCBI36
NG_023255.1:g.76901T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4434T= (LAMB1) MANE Select ENSP00000222399.6:p.Ser1478=
ENST00000393561.6:c.4023T= (LAMB1) ENSP00000377191.2:p.Ser1341=
ENST00000468518.2:n.2668T= (LAMB1)
ENST00000468999.2:n.2582T= (LAMB1)
ENST00000474380.2:n.1249T= (LAMB1)
ENST00000676574.1:c.*350T= (LAMB1) ENSP00000503081.1:n.*350T=
ENST00000676744.1:n.280T= (LAMB1)
ENST00000676777.1:c.4434T= (LAMB1) ENSP00000504756.1:p.Ser1478=
ENST00000677101.1:c.*4070T= (LAMB1) ENSP00000503156.1:n.*4070T=
ENST00000677144.1:c.*1253T= (LAMB1) ENSP00000503049.1:n.*1253T=
ENST00000677485.1:n.5658T= (LAMB1)
ENST00000677588.1:c.*665T= (LAMB1) ENSP00000502938.1:n.*665T=
ENST00000677793.1:c.4122T= (LAMB1) ENSP00000504020.1:p.Ser1374=
ENST00000677801.1:c.*263T= (LAMB1) ENSP00000503438.1:n.*263T=
ENST00000678232.1:n.4623T= (LAMB1)
ENST00000678310.1:n.2603T= (LAMB1)
ENST00000678698.1:c.*506T= (LAMB1) ENSP00000503198.1:n.*506T=
ENST00000678704.1:c.*3016T= (LAMB1) ENSP00000504589.1:n.*3016T=
ENST00000678892.1:c.*506T= (LAMB1) ENSP00000504841.1:n.*506T=
ENST00000679200.1:c.*506T= (LAMB1) ENSP00000503498.1:n.*506T=
ENST00000222399.10:c.4434T= (LAMB1) ENSP00000222399.6:p.Ser1478=
ENST00000393561.5:c.4506T= (LAMB1) ENSP00000377191.1:p.Ser1502=
ENST00000417551.5:c.*153A= (DLD) ENSP00000390667.1:n.*153A=
ENST00000468518.1:n.493T= (LAMB1)
ENST00000474380.1:n.671T= (LAMB1)
NM_002291.2:c.4434T= (LAMB1) NP_002282.2:p.Ser1478=
XM_017012201.1:c.4506T= (LAMB1) XP_016867690.1:p.Ser1502=
XR_001744756.1:n.5353T= (LAMB1)
NM_002291.3:c.4434T= (LAMB1) MANE Select NP_002282.2:p.Ser1478=