Canonical Allele Identifier: CA368864152

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571899T>A (hg19) ; chr7:g.107931454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931454T>A , CM000669.2:g.107931454T>A	GRCh38
NC_000007.13:g.107571899T>A , CM000669.1:g.107571899T>A	GRCh37
NC_000007.12:g.107359135T>A	NCBI36
NG_023255.1:g.76906A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4439A>T (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1480Val
ENST00000393561.6:c.4028A>T (LAMB1)	ENSP00000377191.2:p.Glu1343Val
ENST00000468518.2:n.2673A>T (LAMB1)
ENST00000468999.2:n.2587A>T (LAMB1)
ENST00000474380.2:n.1254A>T (LAMB1)
ENST00000676574.1:c.*355A>T (LAMB1)	ENSP00000503081.1:n.*355A>T
ENST00000676744.1:n.285A>T (LAMB1)
ENST00000676777.1:c.4439A>T (LAMB1)	ENSP00000504756.1:p.Glu1480Val
ENST00000677101.1:c.*4075A>T (LAMB1)	ENSP00000503156.1:n.*4075A>T
ENST00000677144.1:c.*1258A>T (LAMB1)	ENSP00000503049.1:n.*1258A>T
ENST00000677485.1:n.5663A>T (LAMB1)
ENST00000677588.1:c.*670A>T (LAMB1)	ENSP00000502938.1:n.*670A>T
ENST00000677793.1:c.4127A>T (LAMB1)	ENSP00000504020.1:p.Glu1376Val
ENST00000677801.1:c.*268A>T (LAMB1)	ENSP00000503438.1:n.*268A>T
ENST00000678232.1:n.4628A>T (LAMB1)
ENST00000678310.1:n.2608A>T (LAMB1)
ENST00000678698.1:c.*511A>T (LAMB1)	ENSP00000503198.1:n.*511A>T
ENST00000678704.1:c.*3021A>T (LAMB1)	ENSP00000504589.1:n.*3021A>T
ENST00000678892.1:c.*511A>T (LAMB1)	ENSP00000504841.1:n.*511A>T
ENST00000679200.1:c.*511A>T (LAMB1)	ENSP00000503498.1:n.*511A>T
ENST00000222399.10:c.4439A>T (LAMB1)	ENSP00000222399.6:p.Glu1480Val
ENST00000393561.5:c.4511A>T (LAMB1)	ENSP00000377191.1:p.Glu1504Val
ENST00000417551.5:c.*148T>A (DLD)	ENSP00000390667.1:n.*148T>A
ENST00000468518.1:n.498A>T (LAMB1)
ENST00000474380.1:n.676A>T (LAMB1)
NM_002291.2:c.4439A>T (LAMB1)	NP_002282.2:p.Glu1480Val
XM_017012201.1:c.4511A>T (LAMB1)	XP_016867690.1:p.Glu1504Val
XR_001744756.1:n.5358A>T (LAMB1)
NM_002291.3:c.4439A>T (LAMB1) MANE Select	NP_002282.2:p.Glu1480Val