Canonical Allele Identifier: CA368864256

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571923G>T (hg19) ; chr7:g.107931478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931478G>T , CM000669.2:g.107931478G>T	GRCh38
NC_000007.13:g.107571923G>T , CM000669.1:g.107571923G>T	GRCh37
NC_000007.12:g.107359159G>T	NCBI36
NG_023255.1:g.76882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4415C>A (LAMB1) MANE Select	ENSP00000222399.6:p.Ala1472Glu
ENST00000393561.6:c.4004C>A (LAMB1)	ENSP00000377191.2:p.Ala1335Glu
ENST00000468518.2:n.2649C>A (LAMB1)
ENST00000468999.2:n.2563C>A (LAMB1)
ENST00000474380.2:n.1230C>A (LAMB1)
ENST00000676574.1:c.*331C>A (LAMB1)	ENSP00000503081.1:n.*331C>A
ENST00000676744.1:n.261C>A (LAMB1)
ENST00000676777.1:c.4415C>A (LAMB1)	ENSP00000504756.1:p.Ala1472Glu
ENST00000677101.1:c.*4051C>A (LAMB1)	ENSP00000503156.1:n.*4051C>A
ENST00000677144.1:c.*1234C>A (LAMB1)	ENSP00000503049.1:n.*1234C>A
ENST00000677485.1:n.5639C>A (LAMB1)
ENST00000677588.1:c.*646C>A (LAMB1)	ENSP00000502938.1:n.*646C>A
ENST00000677793.1:c.4103C>A (LAMB1)	ENSP00000504020.1:p.Ala1368Glu
ENST00000677801.1:c.*244C>A (LAMB1)	ENSP00000503438.1:n.*244C>A
ENST00000678232.1:n.4604C>A (LAMB1)
ENST00000678310.1:n.2584C>A (LAMB1)
ENST00000678698.1:c.*487C>A (LAMB1)	ENSP00000503198.1:n.*487C>A
ENST00000678704.1:c.*2997C>A (LAMB1)	ENSP00000504589.1:n.*2997C>A
ENST00000678892.1:c.*487C>A (LAMB1)	ENSP00000504841.1:n.*487C>A
ENST00000679200.1:c.*487C>A (LAMB1)	ENSP00000503498.1:n.*487C>A
ENST00000222399.10:c.4415C>A (LAMB1)	ENSP00000222399.6:p.Ala1472Glu
ENST00000393561.5:c.4487C>A (LAMB1)	ENSP00000377191.1:p.Ala1496Glu
ENST00000417551.5:c.*172G>T (DLD)	ENSP00000390667.1:n.*172G>T
ENST00000468518.1:n.474C>A (LAMB1)
ENST00000474380.1:n.652C>A (LAMB1)
NM_002291.2:c.4415C>A (LAMB1)	NP_002282.2:p.Ala1472Glu
XM_017012201.1:c.4487C>A (LAMB1)	XP_016867690.1:p.Ala1496Glu
XR_001744756.1:n.5334C>A (LAMB1)
NM_002291.3:c.4415C>A (LAMB1) MANE Select	NP_002282.2:p.Ala1472Glu