Canonical Allele Identifier: CA368864150

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931453-T-G
• MyVariant Identifiers: chr7:g.107571898T>G (hg19) ; chr7:g.107931453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931453T>G , CM000669.2:g.107931453T>G	GRCh38
NC_000007.13:g.107571898T>G , CM000669.1:g.107571898T>G	GRCh37
NC_000007.12:g.107359134T>G	NCBI36
NG_023255.1:g.76907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4440A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1480Asp
ENST00000393561.6:c.4029A>C (LAMB1)	ENSP00000377191.2:p.Glu1343Asp
ENST00000468518.2:n.2674A>C (LAMB1)
ENST00000468999.2:n.2588A>C (LAMB1)
ENST00000474380.2:n.1255A>C (LAMB1)
ENST00000676574.1:c.*356A>C (LAMB1)	ENSP00000503081.1:n.*356A>C
ENST00000676744.1:n.286A>C (LAMB1)
ENST00000676777.1:c.4440A>C (LAMB1)	ENSP00000504756.1:p.Glu1480Asp
ENST00000677101.1:c.*4076A>C (LAMB1)	ENSP00000503156.1:n.*4076A>C
ENST00000677144.1:c.*1259A>C (LAMB1)	ENSP00000503049.1:n.*1259A>C
ENST00000677485.1:n.5664A>C (LAMB1)
ENST00000677588.1:c.*671A>C (LAMB1)	ENSP00000502938.1:n.*671A>C
ENST00000677793.1:c.4128A>C (LAMB1)	ENSP00000504020.1:p.Glu1376Asp
ENST00000677801.1:c.*269A>C (LAMB1)	ENSP00000503438.1:n.*269A>C
ENST00000678232.1:n.4629A>C (LAMB1)
ENST00000678310.1:n.2609A>C (LAMB1)
ENST00000678698.1:c.*512A>C (LAMB1)	ENSP00000503198.1:n.*512A>C
ENST00000678704.1:c.*3022A>C (LAMB1)	ENSP00000504589.1:n.*3022A>C
ENST00000678892.1:c.*512A>C (LAMB1)	ENSP00000504841.1:n.*512A>C
ENST00000679200.1:c.*512A>C (LAMB1)	ENSP00000503498.1:n.*512A>C
ENST00000222399.10:c.4440A>C (LAMB1)	ENSP00000222399.6:p.Glu1480Asp
ENST00000393561.5:c.4512A>C (LAMB1)	ENSP00000377191.1:p.Glu1504Asp
ENST00000417551.5:c.*147T>G (DLD)	ENSP00000390667.1:n.*147T>G
ENST00000468518.1:n.499A>C (LAMB1)
ENST00000474380.1:n.677A>C (LAMB1)
NM_002291.2:c.4440A>C (LAMB1)	NP_002282.2:p.Glu1480Asp
XM_017012201.1:c.4512A>C (LAMB1)	XP_016867690.1:p.Glu1504Asp
XR_001744756.1:n.5359A>C (LAMB1)
NM_002291.3:c.4440A>C (LAMB1) MANE Select	NP_002282.2:p.Glu1480Asp