Canonical Allele Identifier: CA368864243

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571919A>T (hg19) ; chr7:g.107931474A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931474A>T , CM000669.2:g.107931474A>T	GRCh38
NC_000007.13:g.107571919A>T , CM000669.1:g.107571919A>T	GRCh37
NC_000007.12:g.107359155A>T	NCBI36
NG_023255.1:g.76886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4419T>A (LAMB1) MANE Select	ENSP00000222399.6:p.Asp1473Glu
ENST00000393561.6:c.4008T>A (LAMB1)	ENSP00000377191.2:p.Asp1336Glu
ENST00000468518.2:n.2653T>A (LAMB1)
ENST00000468999.2:n.2567T>A (LAMB1)
ENST00000474380.2:n.1234T>A (LAMB1)
ENST00000676574.1:c.*335T>A (LAMB1)	ENSP00000503081.1:n.*335T>A
ENST00000676744.1:n.265T>A (LAMB1)
ENST00000676777.1:c.4419T>A (LAMB1)	ENSP00000504756.1:p.Asp1473Glu
ENST00000677101.1:c.*4055T>A (LAMB1)	ENSP00000503156.1:n.*4055T>A
ENST00000677144.1:c.*1238T>A (LAMB1)	ENSP00000503049.1:n.*1238T>A
ENST00000677485.1:n.5643T>A (LAMB1)
ENST00000677588.1:c.*650T>A (LAMB1)	ENSP00000502938.1:n.*650T>A
ENST00000677793.1:c.4107T>A (LAMB1)	ENSP00000504020.1:p.Asp1369Glu
ENST00000677801.1:c.*248T>A (LAMB1)	ENSP00000503438.1:n.*248T>A
ENST00000678232.1:n.4608T>A (LAMB1)
ENST00000678310.1:n.2588T>A (LAMB1)
ENST00000678698.1:c.*491T>A (LAMB1)	ENSP00000503198.1:n.*491T>A
ENST00000678704.1:c.*3001T>A (LAMB1)	ENSP00000504589.1:n.*3001T>A
ENST00000678892.1:c.*491T>A (LAMB1)	ENSP00000504841.1:n.*491T>A
ENST00000679200.1:c.*491T>A (LAMB1)	ENSP00000503498.1:n.*491T>A
ENST00000222399.10:c.4419T>A (LAMB1)	ENSP00000222399.6:p.Asp1473Glu
ENST00000393561.5:c.4491T>A (LAMB1)	ENSP00000377191.1:p.Asp1497Glu
ENST00000417551.5:c.*168A>T (DLD)	ENSP00000390667.1:n.*168A>T
ENST00000468518.1:n.478T>A (LAMB1)
ENST00000474380.1:n.656T>A (LAMB1)
NM_002291.2:c.4419T>A (LAMB1)	NP_002282.2:p.Asp1473Glu
XM_017012201.1:c.4491T>A (LAMB1)	XP_016867690.1:p.Asp1497Glu
XR_001744756.1:n.5338T>A (LAMB1)
NM_002291.3:c.4419T>A (LAMB1) MANE Select	NP_002282.2:p.Asp1473Glu