Canonical Allele Identifier: CA368864113

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571888A>T (hg19) ; chr7:g.107931443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931443A>T , CM000669.2:g.107931443A>T	GRCh38
NC_000007.13:g.107571888A>T , CM000669.1:g.107571888A>T	GRCh37
NC_000007.12:g.107359124A>T	NCBI36
NG_023255.1:g.76917T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4450T>A (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1484Met
ENST00000393561.6:c.4039T>A (LAMB1)	ENSP00000377191.2:p.Leu1347Met
ENST00000468518.2:n.2684T>A (LAMB1)
ENST00000468999.2:n.2598T>A (LAMB1)
ENST00000474380.2:n.1265T>A (LAMB1)
ENST00000676574.1:c.*366T>A (LAMB1)	ENSP00000503081.1:n.*366T>A
ENST00000676744.1:n.296T>A (LAMB1)
ENST00000676777.1:c.4450T>A (LAMB1)	ENSP00000504756.1:p.Leu1484Met
ENST00000677101.1:c.*4086T>A (LAMB1)	ENSP00000503156.1:n.*4086T>A
ENST00000677144.1:c.*1269T>A (LAMB1)	ENSP00000503049.1:n.*1269T>A
ENST00000677485.1:n.5674T>A (LAMB1)
ENST00000677588.1:c.*681T>A (LAMB1)	ENSP00000502938.1:n.*681T>A
ENST00000677793.1:c.4138T>A (LAMB1)	ENSP00000504020.1:p.Leu1380Met
ENST00000677801.1:c.*279T>A (LAMB1)	ENSP00000503438.1:n.*279T>A
ENST00000678232.1:n.4639T>A (LAMB1)
ENST00000678310.1:n.2619T>A (LAMB1)
ENST00000678698.1:c.*522T>A (LAMB1)	ENSP00000503198.1:n.*522T>A
ENST00000678704.1:c.*3032T>A (LAMB1)	ENSP00000504589.1:n.*3032T>A
ENST00000678892.1:c.*522T>A (LAMB1)	ENSP00000504841.1:n.*522T>A
ENST00000679200.1:c.*522T>A (LAMB1)	ENSP00000503498.1:n.*522T>A
ENST00000222399.10:c.4450T>A (LAMB1)	ENSP00000222399.6:p.Leu1484Met
ENST00000393561.5:c.4522T>A (LAMB1)	ENSP00000377191.1:p.Leu1508Met
ENST00000417551.5:c.*137A>T (DLD)	ENSP00000390667.1:n.*137A>T
ENST00000468518.1:n.509T>A (LAMB1)
ENST00000474380.1:n.687T>A (LAMB1)
NM_002291.2:c.4450T>A (LAMB1)	NP_002282.2:p.Leu1484Met
XM_017012201.1:c.4522T>A (LAMB1)	XP_016867690.1:p.Leu1508Met
XR_001744756.1:n.5369T>A (LAMB1)
NM_002291.3:c.4450T>A (LAMB1) MANE Select	NP_002282.2:p.Leu1484Met