Canonical Allele Identifier: CA4435034

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs143261373
• ExAC: 7:107571914 G / A
• gnomAD v2: 7-107571914-G-A
• gnomAD v3: 7-107931469-G-A
• gnomAD v4: 7-107931469-G-A
• MyVariant Identifiers: chr7:g.107571914G>A (hg19) ; chr7:g.107931469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931469G>A , CM000669.2:g.107931469G>A	GRCh38
NC_000007.13:g.107571914G>A , CM000669.1:g.107571914G>A	GRCh37
NC_000007.12:g.107359150G>A	NCBI36
NG_023255.1:g.76891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4424C>T (LAMB1) MANE Select	ENSP00000222399.6:p.Ala1475Val
ENST00000393561.6:c.4013C>T (LAMB1)	ENSP00000377191.2:p.Ala1338Val
ENST00000468518.2:n.2658C>T (LAMB1)
ENST00000468999.2:n.2572C>T (LAMB1)
ENST00000474380.2:n.1239C>T (LAMB1)
ENST00000676574.1:c.*340C>T (LAMB1)	ENSP00000503081.1:n.*340C>T
ENST00000676744.1:n.270C>T (LAMB1)
ENST00000676777.1:c.4424C>T (LAMB1)	ENSP00000504756.1:p.Ala1475Val
ENST00000677101.1:c.*4060C>T (LAMB1)	ENSP00000503156.1:n.*4060C>T
ENST00000677144.1:c.*1243C>T (LAMB1)	ENSP00000503049.1:n.*1243C>T
ENST00000677485.1:n.5648C>T (LAMB1)
ENST00000677588.1:c.*655C>T (LAMB1)	ENSP00000502938.1:n.*655C>T
ENST00000677793.1:c.4112C>T (LAMB1)	ENSP00000504020.1:p.Ala1371Val
ENST00000677801.1:c.*253C>T (LAMB1)	ENSP00000503438.1:n.*253C>T
ENST00000678232.1:n.4613C>T (LAMB1)
ENST00000678310.1:n.2593C>T (LAMB1)
ENST00000678698.1:c.*496C>T (LAMB1)	ENSP00000503198.1:n.*496C>T
ENST00000678704.1:c.*3006C>T (LAMB1)	ENSP00000504589.1:n.*3006C>T
ENST00000678892.1:c.*496C>T (LAMB1)	ENSP00000504841.1:n.*496C>T
ENST00000679200.1:c.*496C>T (LAMB1)	ENSP00000503498.1:n.*496C>T
ENST00000222399.10:c.4424C>T (LAMB1)	ENSP00000222399.6:p.Ala1475Val
ENST00000393561.5:c.4496C>T (LAMB1)	ENSP00000377191.1:p.Ala1499Val
ENST00000417551.5:c.*163G>A (DLD)	ENSP00000390667.1:n.*163G>A
ENST00000468518.1:n.483C>T (LAMB1)
ENST00000474380.1:n.661C>T (LAMB1)
NM_002291.2:c.4424C>T (LAMB1)	NP_002282.2:p.Ala1475Val
XM_017012201.1:c.4496C>T (LAMB1)	XP_016867690.1:p.Ala1499Val
XR_001744756.1:n.5343C>T (LAMB1)
NM_002291.3:c.4424C>T (LAMB1) MANE Select	NP_002282.2:p.Ala1475Val