Canonical Allele Identifier: CA368863983

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs2032707513
• gnomAD v3: 7-107931412-T-G
• gnomAD v4: 7-107931412-T-G
• MyVariant Identifiers: chr7:g.107571857T>G (hg19) ; chr7:g.107931412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931412T>G , CM000669.2:g.107931412T>G	GRCh38
NC_000007.13:g.107571857T>G , CM000669.1:g.107571857T>G	GRCh37
NC_000007.12:g.107359093T>G	NCBI36
NG_023255.1:g.76948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4481A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Asp1494Ala
ENST00000393561.6:c.4070A>C (LAMB1)	ENSP00000377191.2:p.Asp1357Ala
ENST00000468518.2:n.2715A>C (LAMB1)
ENST00000468999.2:n.2629A>C (LAMB1)
ENST00000474380.2:n.1296A>C (LAMB1)
ENST00000676574.1:c.*397A>C (LAMB1)	ENSP00000503081.1:n.*397A>C
ENST00000676744.1:n.327A>C (LAMB1)
ENST00000676777.1:c.4481A>C (LAMB1)	ENSP00000504756.1:p.Asp1494Ala
ENST00000677101.1:c.*4117A>C (LAMB1)	ENSP00000503156.1:n.*4117A>C
ENST00000677144.1:c.*1300A>C (LAMB1)	ENSP00000503049.1:n.*1300A>C
ENST00000677485.1:n.5705A>C (LAMB1)
ENST00000677588.1:c.*712A>C (LAMB1)	ENSP00000502938.1:n.*712A>C
ENST00000677793.1:c.4169A>C (LAMB1)	ENSP00000504020.1:p.Asp1390Ala
ENST00000677801.1:c.*310A>C (LAMB1)	ENSP00000503438.1:n.*310A>C
ENST00000678232.1:n.4670A>C (LAMB1)
ENST00000678310.1:n.2650A>C (LAMB1)
ENST00000678698.1:c.*553A>C (LAMB1)	ENSP00000503198.1:n.*553A>C
ENST00000678704.1:c.*3063A>C (LAMB1)	ENSP00000504589.1:n.*3063A>C
ENST00000678892.1:c.*553A>C (LAMB1)	ENSP00000504841.1:n.*553A>C
ENST00000679200.1:c.*553A>C (LAMB1)	ENSP00000503498.1:n.*553A>C
ENST00000222399.10:c.4481A>C (LAMB1)	ENSP00000222399.6:p.Asp1494Ala
ENST00000393561.5:c.4553A>C (LAMB1)	ENSP00000377191.1:p.Asp1518Ala
ENST00000417551.5:c.*125-19T>G (DLD)	ENSP00000390667.1:n.*125-19T>G
ENST00000468518.1:n.540A>C (LAMB1)
ENST00000474380.1:n.718A>C (LAMB1)
NM_002291.2:c.4481A>C (LAMB1)	NP_002282.2:p.Asp1494Ala
XM_017012201.1:c.4553A>C (LAMB1)	XP_016867690.1:p.Asp1518Ala
XR_001744756.1:n.5400A>C (LAMB1)
NM_002291.3:c.4481A>C (LAMB1) MANE Select	NP_002282.2:p.Asp1494Ala