Canonical Allele Identifier: CA368864081

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571881G>A (hg19) ; chr7:g.107931436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931436G>A , CM000669.2:g.107931436G>A	GRCh38
NC_000007.13:g.107571881G>A , CM000669.1:g.107571881G>A	GRCh37
NC_000007.12:g.107359117G>A	NCBI36
NG_023255.1:g.76924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4457C>T (LAMB1) MANE Select	ENSP00000222399.6:p.Thr1486Ile
ENST00000393561.6:c.4046C>T (LAMB1)	ENSP00000377191.2:p.Thr1349Ile
ENST00000468518.2:n.2691C>T (LAMB1)
ENST00000468999.2:n.2605C>T (LAMB1)
ENST00000474380.2:n.1272C>T (LAMB1)
ENST00000676574.1:c.*373C>T (LAMB1)	ENSP00000503081.1:n.*373C>T
ENST00000676744.1:n.303C>T (LAMB1)
ENST00000676777.1:c.4457C>T (LAMB1)	ENSP00000504756.1:p.Thr1486Ile
ENST00000677101.1:c.*4093C>T (LAMB1)	ENSP00000503156.1:n.*4093C>T
ENST00000677144.1:c.*1276C>T (LAMB1)	ENSP00000503049.1:n.*1276C>T
ENST00000677485.1:n.5681C>T (LAMB1)
ENST00000677588.1:c.*688C>T (LAMB1)	ENSP00000502938.1:n.*688C>T
ENST00000677793.1:c.4145C>T (LAMB1)	ENSP00000504020.1:p.Thr1382Ile
ENST00000677801.1:c.*286C>T (LAMB1)	ENSP00000503438.1:n.*286C>T
ENST00000678232.1:n.4646C>T (LAMB1)
ENST00000678310.1:n.2626C>T (LAMB1)
ENST00000678698.1:c.*529C>T (LAMB1)	ENSP00000503198.1:n.*529C>T
ENST00000678704.1:c.*3039C>T (LAMB1)	ENSP00000504589.1:n.*3039C>T
ENST00000678892.1:c.*529C>T (LAMB1)	ENSP00000504841.1:n.*529C>T
ENST00000679200.1:c.*529C>T (LAMB1)	ENSP00000503498.1:n.*529C>T
ENST00000222399.10:c.4457C>T (LAMB1)	ENSP00000222399.6:p.Thr1486Ile
ENST00000393561.5:c.4529C>T (LAMB1)	ENSP00000377191.1:p.Thr1510Ile
ENST00000417551.5:c.*130G>A (DLD)	ENSP00000390667.1:n.*130G>A
ENST00000468518.1:n.516C>T (LAMB1)
ENST00000474380.1:n.694C>T (LAMB1)
NM_002291.2:c.4457C>T (LAMB1)	NP_002282.2:p.Thr1486Ile
XM_017012201.1:c.4529C>T (LAMB1)	XP_016867690.1:p.Thr1510Ile
XR_001744756.1:n.5376C>T (LAMB1)
NM_002291.3:c.4457C>T (LAMB1) MANE Select	NP_002282.2:p.Thr1486Ile