Canonical Allele Identifier: CA368864119

Gene: LAMB1 DLD

Linked Data

• COSMIC: COSM360342
• MyVariant Identifiers: chr7:g.107571890A>C (hg19) ; chr7:g.107931445A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931445A>C , CM000669.2:g.107931445A>C	GRCh38
NC_000007.13:g.107571890A>C , CM000669.1:g.107571890A>C	GRCh37
NC_000007.12:g.107359126A>C	NCBI36
NG_023255.1:g.76915T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4448T>G (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1483Arg
ENST00000393561.6:c.4037T>G (LAMB1)	ENSP00000377191.2:p.Leu1346Arg
ENST00000468518.2:n.2682T>G (LAMB1)
ENST00000468999.2:n.2596T>G (LAMB1)
ENST00000474380.2:n.1263T>G (LAMB1)
ENST00000676574.1:c.*364T>G (LAMB1)	ENSP00000503081.1:n.*364T>G
ENST00000676744.1:n.294T>G (LAMB1)
ENST00000676777.1:c.4448T>G (LAMB1)	ENSP00000504756.1:p.Leu1483Arg
ENST00000677101.1:c.*4084T>G (LAMB1)	ENSP00000503156.1:n.*4084T>G
ENST00000677144.1:c.*1267T>G (LAMB1)	ENSP00000503049.1:n.*1267T>G
ENST00000677485.1:n.5672T>G (LAMB1)
ENST00000677588.1:c.*679T>G (LAMB1)	ENSP00000502938.1:n.*679T>G
ENST00000677793.1:c.4136T>G (LAMB1)	ENSP00000504020.1:p.Leu1379Arg
ENST00000677801.1:c.*277T>G (LAMB1)	ENSP00000503438.1:n.*277T>G
ENST00000678232.1:n.4637T>G (LAMB1)
ENST00000678310.1:n.2617T>G (LAMB1)
ENST00000678698.1:c.*520T>G (LAMB1)	ENSP00000503198.1:n.*520T>G
ENST00000678704.1:c.*3030T>G (LAMB1)	ENSP00000504589.1:n.*3030T>G
ENST00000678892.1:c.*520T>G (LAMB1)	ENSP00000504841.1:n.*520T>G
ENST00000679200.1:c.*520T>G (LAMB1)	ENSP00000503498.1:n.*520T>G
ENST00000222399.10:c.4448T>G (LAMB1)	ENSP00000222399.6:p.Leu1483Arg
ENST00000393561.5:c.4520T>G (LAMB1)	ENSP00000377191.1:p.Leu1507Arg
ENST00000417551.5:c.*139A>C (DLD)	ENSP00000390667.1:n.*139A>C
ENST00000468518.1:n.507T>G (LAMB1)
ENST00000474380.1:n.685T>G (LAMB1)
NM_002291.2:c.4448T>G (LAMB1)	NP_002282.2:p.Leu1483Arg
XM_017012201.1:c.4520T>G (LAMB1)	XP_016867690.1:p.Leu1507Arg
XR_001744756.1:n.5367T>G (LAMB1)
NM_002291.3:c.4448T>G (LAMB1) MANE Select	NP_002282.2:p.Leu1483Arg