Canonical Allele Identifier: CA368863999

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571861T>A (hg19) ; chr7:g.107931416T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931416T>A , CM000669.2:g.107931416T>A	GRCh38
NC_000007.13:g.107571861T>A , CM000669.1:g.107571861T>A	GRCh37
NC_000007.12:g.107359097T>A	NCBI36
NG_023255.1:g.76944A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4477A>T (LAMB1) MANE Select	ENSP00000222399.6:p.Met1493Leu
ENST00000393561.6:c.4066A>T (LAMB1)	ENSP00000377191.2:p.Met1356Leu
ENST00000468518.2:n.2711A>T (LAMB1)
ENST00000468999.2:n.2625A>T (LAMB1)
ENST00000474380.2:n.1292A>T (LAMB1)
ENST00000676574.1:c.*393A>T (LAMB1)	ENSP00000503081.1:n.*393A>T
ENST00000676744.1:n.323A>T (LAMB1)
ENST00000676777.1:c.4477A>T (LAMB1)	ENSP00000504756.1:p.Met1493Leu
ENST00000677101.1:c.*4113A>T (LAMB1)	ENSP00000503156.1:n.*4113A>T
ENST00000677144.1:c.*1296A>T (LAMB1)	ENSP00000503049.1:n.*1296A>T
ENST00000677485.1:n.5701A>T (LAMB1)
ENST00000677588.1:c.*708A>T (LAMB1)	ENSP00000502938.1:n.*708A>T
ENST00000677793.1:c.4165A>T (LAMB1)	ENSP00000504020.1:p.Met1389Leu
ENST00000677801.1:c.*306A>T (LAMB1)	ENSP00000503438.1:n.*306A>T
ENST00000678232.1:n.4666A>T (LAMB1)
ENST00000678310.1:n.2646A>T (LAMB1)
ENST00000678698.1:c.*549A>T (LAMB1)	ENSP00000503198.1:n.*549A>T
ENST00000678704.1:c.*3059A>T (LAMB1)	ENSP00000504589.1:n.*3059A>T
ENST00000678892.1:c.*549A>T (LAMB1)	ENSP00000504841.1:n.*549A>T
ENST00000679200.1:c.*549A>T (LAMB1)	ENSP00000503498.1:n.*549A>T
ENST00000222399.10:c.4477A>T (LAMB1)	ENSP00000222399.6:p.Met1493Leu
ENST00000393561.5:c.4549A>T (LAMB1)	ENSP00000377191.1:p.Met1517Leu
ENST00000417551.5:c.*125-15T>A (DLD)	ENSP00000390667.1:n.*125-15T>A
ENST00000468518.1:n.536A>T (LAMB1)
ENST00000474380.1:n.714A>T (LAMB1)
NM_002291.2:c.4477A>T (LAMB1)	NP_002282.2:p.Met1493Leu
XM_017012201.1:c.4549A>T (LAMB1)	XP_016867690.1:p.Met1517Leu
XR_001744756.1:n.5396A>T (LAMB1)
NM_002291.3:c.4477A>T (LAMB1) MANE Select	NP_002282.2:p.Met1493Leu