Canonical Allele Identifier: CA368864109

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571887A>G (hg19) ; chr7:g.107931442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931442A>G , CM000669.2:g.107931442A>G	GRCh38
NC_000007.13:g.107571887A>G , CM000669.1:g.107571887A>G	GRCh37
NC_000007.12:g.107359123A>G	NCBI36
NG_023255.1:g.76918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4451T>C (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1484Ser
ENST00000393561.6:c.4040T>C (LAMB1)	ENSP00000377191.2:p.Leu1347Ser
ENST00000468518.2:n.2685T>C (LAMB1)
ENST00000468999.2:n.2599T>C (LAMB1)
ENST00000474380.2:n.1266T>C (LAMB1)
ENST00000676574.1:c.*367T>C (LAMB1)	ENSP00000503081.1:n.*367T>C
ENST00000676744.1:n.297T>C (LAMB1)
ENST00000676777.1:c.4451T>C (LAMB1)	ENSP00000504756.1:p.Leu1484Ser
ENST00000677101.1:c.*4087T>C (LAMB1)	ENSP00000503156.1:n.*4087T>C
ENST00000677144.1:c.*1270T>C (LAMB1)	ENSP00000503049.1:n.*1270T>C
ENST00000677485.1:n.5675T>C (LAMB1)
ENST00000677588.1:c.*682T>C (LAMB1)	ENSP00000502938.1:n.*682T>C
ENST00000677793.1:c.4139T>C (LAMB1)	ENSP00000504020.1:p.Leu1380Ser
ENST00000677801.1:c.*280T>C (LAMB1)	ENSP00000503438.1:n.*280T>C
ENST00000678232.1:n.4640T>C (LAMB1)
ENST00000678310.1:n.2620T>C (LAMB1)
ENST00000678698.1:c.*523T>C (LAMB1)	ENSP00000503198.1:n.*523T>C
ENST00000678704.1:c.*3033T>C (LAMB1)	ENSP00000504589.1:n.*3033T>C
ENST00000678892.1:c.*523T>C (LAMB1)	ENSP00000504841.1:n.*523T>C
ENST00000679200.1:c.*523T>C (LAMB1)	ENSP00000503498.1:n.*523T>C
ENST00000222399.10:c.4451T>C (LAMB1)	ENSP00000222399.6:p.Leu1484Ser
ENST00000393561.5:c.4523T>C (LAMB1)	ENSP00000377191.1:p.Leu1508Ser
ENST00000417551.5:c.*136A>G (DLD)	ENSP00000390667.1:n.*136A>G
ENST00000468518.1:n.510T>C (LAMB1)
ENST00000474380.1:n.688T>C (LAMB1)
NM_002291.2:c.4451T>C (LAMB1)	NP_002282.2:p.Leu1484Ser
XM_017012201.1:c.4523T>C (LAMB1)	XP_016867690.1:p.Leu1508Ser
XR_001744756.1:n.5370T>C (LAMB1)
NM_002291.3:c.4451T>C (LAMB1) MANE Select	NP_002282.2:p.Leu1484Ser