Canonical Allele Identifier: CA1732870629

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931458C= , CM000669.2:g.107931458C= GRCh38
NC_000007.13:g.107571903C= , CM000669.1:g.107571903C= GRCh37
NC_000007.12:g.107359139C= NCBI36
NG_023255.1:g.76902G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4435G= (LAMB1) MANE Select ENSP00000222399.6:p.Ala1479=
ENST00000393561.6:c.4024G= (LAMB1) ENSP00000377191.2:p.Ala1342=
ENST00000468518.2:n.2669G= (LAMB1)
ENST00000468999.2:n.2583G= (LAMB1)
ENST00000474380.2:n.1250G= (LAMB1)
ENST00000676574.1:c.*351G= (LAMB1) ENSP00000503081.1:n.*351G=
ENST00000676744.1:n.281G= (LAMB1)
ENST00000676777.1:c.4435G= (LAMB1) ENSP00000504756.1:p.Ala1479=
ENST00000677101.1:c.*4071G= (LAMB1) ENSP00000503156.1:n.*4071G=
ENST00000677144.1:c.*1254G= (LAMB1) ENSP00000503049.1:n.*1254G=
ENST00000677485.1:n.5659G= (LAMB1)
ENST00000677588.1:c.*666G= (LAMB1) ENSP00000502938.1:n.*666G=
ENST00000677793.1:c.4123G= (LAMB1) ENSP00000504020.1:p.Ala1375=
ENST00000677801.1:c.*264G= (LAMB1) ENSP00000503438.1:n.*264G=
ENST00000678232.1:n.4624G= (LAMB1)
ENST00000678310.1:n.2604G= (LAMB1)
ENST00000678698.1:c.*507G= (LAMB1) ENSP00000503198.1:n.*507G=
ENST00000678704.1:c.*3017G= (LAMB1) ENSP00000504589.1:n.*3017G=
ENST00000678892.1:c.*507G= (LAMB1) ENSP00000504841.1:n.*507G=
ENST00000679200.1:c.*507G= (LAMB1) ENSP00000503498.1:n.*507G=
ENST00000222399.10:c.4435G= (LAMB1) ENSP00000222399.6:p.Ala1479=
ENST00000393561.5:c.4507G= (LAMB1) ENSP00000377191.1:p.Ala1503=
ENST00000417551.5:c.*152C= (DLD) ENSP00000390667.1:n.*152C=
ENST00000468518.1:n.494G= (LAMB1)
ENST00000474380.1:n.672G= (LAMB1)
NM_002291.2:c.4435G= (LAMB1) NP_002282.2:p.Ala1479=
XM_017012201.1:c.4507G= (LAMB1) XP_016867690.1:p.Ala1503=
XR_001744756.1:n.5354G= (LAMB1)
NM_002291.3:c.4435G= (LAMB1) MANE Select NP_002282.2:p.Ala1479=