Canonical Allele Identifier: CA1732870692

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931491C= , CM000669.2:g.107931491C= GRCh38
NC_000007.13:g.107571936C= , CM000669.1:g.107571936C= GRCh37
NC_000007.12:g.107359172C= NCBI36
NG_023255.1:g.76869G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4402G= (LAMB1) MANE Select ENSP00000222399.6:p.Ala1468=
ENST00000393561.6:c.3991G= (LAMB1) ENSP00000377191.2:p.Ala1331=
ENST00000468518.2:n.2636G= (LAMB1)
ENST00000468999.2:n.2550G= (LAMB1)
ENST00000474380.2:n.1217G= (LAMB1)
ENST00000676574.1:c.*318G= (LAMB1) ENSP00000503081.1:n.*318G=
ENST00000676744.1:n.248G= (LAMB1)
ENST00000676777.1:c.4402G= (LAMB1) ENSP00000504756.1:p.Ala1468=
ENST00000677101.1:c.*4038G= (LAMB1) ENSP00000503156.1:n.*4038G=
ENST00000677144.1:c.*1221G= (LAMB1) ENSP00000503049.1:n.*1221G=
ENST00000677485.1:n.5626G= (LAMB1)
ENST00000677588.1:c.*633G= (LAMB1) ENSP00000502938.1:n.*633G=
ENST00000677793.1:c.4090G= (LAMB1) ENSP00000504020.1:p.Ala1364=
ENST00000677801.1:c.*231G= (LAMB1) ENSP00000503438.1:n.*231G=
ENST00000678232.1:n.4591G= (LAMB1)
ENST00000678310.1:n.2571G= (LAMB1)
ENST00000678698.1:c.*474G= (LAMB1) ENSP00000503198.1:n.*474G=
ENST00000678704.1:c.*2984G= (LAMB1) ENSP00000504589.1:n.*2984G=
ENST00000678892.1:c.*474G= (LAMB1) ENSP00000504841.1:n.*474G=
ENST00000679200.1:c.*474G= (LAMB1) ENSP00000503498.1:n.*474G=
ENST00000222399.10:c.4402G= (LAMB1) ENSP00000222399.6:p.Ala1468=
ENST00000393561.5:c.4474G= (LAMB1) ENSP00000377191.1:p.Ala1492=
ENST00000417551.5:c.*185C= (DLD) ENSP00000390667.1:n.*185C=
ENST00000468518.1:n.461G= (LAMB1)
ENST00000474380.1:n.639G= (LAMB1)
NM_002291.2:c.4402G= (LAMB1) NP_002282.2:p.Ala1468=
XM_017012201.1:c.4474G= (LAMB1) XP_016867690.1:p.Ala1492=
XR_001744756.1:n.5321G= (LAMB1)
NM_002291.3:c.4402G= (LAMB1) MANE Select NP_002282.2:p.Ala1468=