Canonical Allele Identifier: CA368864022

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571866T>A (hg19) ; chr7:g.107931421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931421T>A , CM000669.2:g.107931421T>A	GRCh38
NC_000007.13:g.107571866T>A , CM000669.1:g.107571866T>A	GRCh37
NC_000007.12:g.107359102T>A	NCBI36
NG_023255.1:g.76939A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4472A>T (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1491Val
ENST00000393561.6:c.4061A>T (LAMB1)	ENSP00000377191.2:p.Glu1354Val
ENST00000468518.2:n.2706A>T (LAMB1)
ENST00000468999.2:n.2620A>T (LAMB1)
ENST00000474380.2:n.1287A>T (LAMB1)
ENST00000676574.1:c.*388A>T (LAMB1)	ENSP00000503081.1:n.*388A>T
ENST00000676744.1:n.318A>T (LAMB1)
ENST00000676777.1:c.4472A>T (LAMB1)	ENSP00000504756.1:p.Glu1491Val
ENST00000677101.1:c.*4108A>T (LAMB1)	ENSP00000503156.1:n.*4108A>T
ENST00000677144.1:c.*1291A>T (LAMB1)	ENSP00000503049.1:n.*1291A>T
ENST00000677485.1:n.5696A>T (LAMB1)
ENST00000677588.1:c.*703A>T (LAMB1)	ENSP00000502938.1:n.*703A>T
ENST00000677793.1:c.4160A>T (LAMB1)	ENSP00000504020.1:p.Glu1387Val
ENST00000677801.1:c.*301A>T (LAMB1)	ENSP00000503438.1:n.*301A>T
ENST00000678232.1:n.4661A>T (LAMB1)
ENST00000678310.1:n.2641A>T (LAMB1)
ENST00000678698.1:c.*544A>T (LAMB1)	ENSP00000503198.1:n.*544A>T
ENST00000678704.1:c.*3054A>T (LAMB1)	ENSP00000504589.1:n.*3054A>T
ENST00000678892.1:c.*544A>T (LAMB1)	ENSP00000504841.1:n.*544A>T
ENST00000679200.1:c.*544A>T (LAMB1)	ENSP00000503498.1:n.*544A>T
ENST00000222399.10:c.4472A>T (LAMB1)	ENSP00000222399.6:p.Glu1491Val
ENST00000393561.5:c.4544A>T (LAMB1)	ENSP00000377191.1:p.Glu1515Val
ENST00000417551.5:c.*125-10T>A (DLD)	ENSP00000390667.1:n.*125-10T>A
ENST00000468518.1:n.531A>T (LAMB1)
ENST00000474380.1:n.709A>T (LAMB1)
NM_002291.2:c.4472A>T (LAMB1)	NP_002282.2:p.Glu1491Val
XM_017012201.1:c.4544A>T (LAMB1)	XP_016867690.1:p.Glu1515Val
XR_001744756.1:n.5391A>T (LAMB1)
NM_002291.3:c.4472A>T (LAMB1) MANE Select	NP_002282.2:p.Glu1491Val