Canonical Allele Identifier: CA368864199

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571909G>C (hg19) ; chr7:g.107931464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931464G>C , CM000669.2:g.107931464G>C	GRCh38
NC_000007.13:g.107571909G>C , CM000669.1:g.107571909G>C	GRCh37
NC_000007.12:g.107359145G>C	NCBI36
NG_023255.1:g.76896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4429C>G (LAMB1) MANE Select	ENSP00000222399.6:p.Gln1477Glu
ENST00000393561.6:c.4018C>G (LAMB1)	ENSP00000377191.2:p.Gln1340Glu
ENST00000468518.2:n.2663C>G (LAMB1)
ENST00000468999.2:n.2577C>G (LAMB1)
ENST00000474380.2:n.1244C>G (LAMB1)
ENST00000676574.1:c.*345C>G (LAMB1)	ENSP00000503081.1:n.*345C>G
ENST00000676744.1:n.275C>G (LAMB1)
ENST00000676777.1:c.4429C>G (LAMB1)	ENSP00000504756.1:p.Gln1477Glu
ENST00000677101.1:c.*4065C>G (LAMB1)	ENSP00000503156.1:n.*4065C>G
ENST00000677144.1:c.*1248C>G (LAMB1)	ENSP00000503049.1:n.*1248C>G
ENST00000677485.1:n.5653C>G (LAMB1)
ENST00000677588.1:c.*660C>G (LAMB1)	ENSP00000502938.1:n.*660C>G
ENST00000677793.1:c.4117C>G (LAMB1)	ENSP00000504020.1:p.Gln1373Glu
ENST00000677801.1:c.*258C>G (LAMB1)	ENSP00000503438.1:n.*258C>G
ENST00000678232.1:n.4618C>G (LAMB1)
ENST00000678310.1:n.2598C>G (LAMB1)
ENST00000678698.1:c.*501C>G (LAMB1)	ENSP00000503198.1:n.*501C>G
ENST00000678704.1:c.*3011C>G (LAMB1)	ENSP00000504589.1:n.*3011C>G
ENST00000678892.1:c.*501C>G (LAMB1)	ENSP00000504841.1:n.*501C>G
ENST00000679200.1:c.*501C>G (LAMB1)	ENSP00000503498.1:n.*501C>G
ENST00000222399.10:c.4429C>G (LAMB1)	ENSP00000222399.6:p.Gln1477Glu
ENST00000393561.5:c.4501C>G (LAMB1)	ENSP00000377191.1:p.Gln1501Glu
ENST00000417551.5:c.*158G>C (DLD)	ENSP00000390667.1:n.*158G>C
ENST00000468518.1:n.488C>G (LAMB1)
ENST00000474380.1:n.666C>G (LAMB1)
NM_002291.2:c.4429C>G (LAMB1)	NP_002282.2:p.Gln1477Glu
XM_017012201.1:c.4501C>G (LAMB1)	XP_016867690.1:p.Gln1501Glu
XR_001744756.1:n.5348C>G (LAMB1)
NM_002291.3:c.4429C>G (LAMB1) MANE Select	NP_002282.2:p.Gln1477Glu