Canonical Allele Identifier: CA457111176

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs1327298435
• MyVariant Identifiers: chr7:g.107571820T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931375T>C , CM000669.2:g.107931375T>C	GRCh38
NC_000007.13:g.107571820T>C , CM000669.1:g.107571820T>C	GRCh37
NC_000007.12:g.107359056T>C	NCBI36
NG_023255.1:g.76985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4518A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Gln1506=
ENST00000393561.6:c.4107A>G (LAMB1)	ENSP00000377191.2:p.Gln1369=
ENST00000468518.2:n.2752A>G (LAMB1)
ENST00000468999.2:n.2666A>G (LAMB1)
ENST00000474380.2:n.1333A>G (LAMB1)
ENST00000676574.1:c.*434A>G (LAMB1)	ENSP00000503081.1:n.*434A>G
ENST00000676744.1:n.364A>G (LAMB1)
ENST00000676777.1:c.4518A>G (LAMB1)	ENSP00000504756.1:p.Gln1506=
ENST00000677101.1:c.*4154A>G (LAMB1)	ENSP00000503156.1:n.*4154A>G
ENST00000677144.1:c.*1337A>G (LAMB1)	ENSP00000503049.1:n.*1337A>G
ENST00000677485.1:n.5742A>G (LAMB1)
ENST00000677588.1:c.*749A>G (LAMB1)	ENSP00000502938.1:n.*749A>G
ENST00000677793.1:c.4206A>G (LAMB1)	ENSP00000504020.1:p.Gln1402=
ENST00000677801.1:c.*347A>G (LAMB1)	ENSP00000503438.1:n.*347A>G
ENST00000677883.1:n.29A>G (LAMB1)
ENST00000678232.1:n.4707A>G (LAMB1)
ENST00000678310.1:n.2687A>G (LAMB1)
ENST00000678698.1:c.*590A>G (LAMB1)	ENSP00000503198.1:n.*590A>G
ENST00000678704.1:c.*3100A>G (LAMB1)	ENSP00000504589.1:n.*3100A>G
ENST00000678892.1:c.*590A>G (LAMB1)	ENSP00000504841.1:n.*590A>G
ENST00000679200.1:c.*590A>G (LAMB1)	ENSP00000503498.1:n.*590A>G
ENST00000222399.10:c.4518A>G (LAMB1)	ENSP00000222399.6:p.Gln1506=
ENST00000393561.5:c.4590A>G (LAMB1)	ENSP00000377191.1:p.Gln1530=
ENST00000417551.5:c.*125-56T>C (DLD)	ENSP00000390667.1:n.*125-56T>C
ENST00000468518.1:n.577A>G (LAMB1)
ENST00000474380.1:n.755A>G (LAMB1)
NM_002291.2:c.4518A>G (LAMB1)	NP_002282.2:p.Gln1506=
XM_017012201.1:c.4590A>G (LAMB1)	XP_016867690.1:p.Gln1530=
XR_001744756.1:n.5437A>G (LAMB1)
NM_002291.3:c.4518A>G (LAMB1) MANE Select	NP_002282.2:p.Gln1506=