Canonical Allele Identifier: CA4435137

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107935420C>T , CM000669.2:g.107935420C>T	GRCh38
NC_000007.13:g.107575865C>T , CM000669.1:g.107575865C>T	GRCh37
NC_000007.12:g.107363101C>T	NCBI36
NG_023255.1:g.72940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4183G>A MANE Select	NP_002282.2:p.Glu1395Lys
ENST00000222399.11:c.4183G>A MANE Select	ENSP00000222399.6:p.Glu1395Lys
NM_002291.2:c.4183G>A	NP_002282.2:p.Glu1395Lys
ENST00000222399.10:c.4183G>A	ENSP00000222399.6:p.Glu1395Lys
ENST00000393561.5:c.4255G>A	ENSP00000377191.1:p.Glu1419Lys
ENST00000393561.6:c.3772G>A	ENSP00000377191.2:p.Glu1258Lys
ENST00000468999.2:n.2331G>A
ENST00000470995.1:n.403G>A
ENST00000474380.1:n.304G>A
ENST00000474380.2:n.998G>A
ENST00000491196.1:n.315G>A
ENST00000491196.2:n.463G>A
ENST00000676574.1:c.4183G>A	ENSP00000503081.1:p.Glu1395Lys
ENST00000676777.1:c.4183G>A	ENSP00000504756.1:p.Glu1395Lys
ENST00000677101.1:c.*3819G>A	ENSP00000503156.1:n.*3819G>A
ENST00000677144.1:c.*1002G>A	ENSP00000503049.1:n.*1002G>A
ENST00000677485.1:n.5407G>A
ENST00000677588.1:c.*414G>A	ENSP00000502938.1:n.*414G>A
ENST00000677652.1:n.4372G>A
ENST00000677793.1:c.3871G>A	ENSP00000504020.1:p.Glu1291Lys
ENST00000677801.1:c.3772G>A	ENSP00000503438.1:p.Glu1258Lys
ENST00000678232.1:n.4372G>A
ENST00000678310.1:n.2236G>A
ENST00000678346.1:c.*3544G>A	ENSP00000504349.1:n.*3544G>A
ENST00000678698.1:c.*255G>A	ENSP00000503198.1:n.*255G>A
ENST00000678704.1:c.*2765G>A	ENSP00000504589.1:n.*2765G>A
ENST00000678892.1:c.*255G>A	ENSP00000504841.1:n.*255G>A
ENST00000679173.1:n.5438G>A
ENST00000679200.1:c.*255G>A	ENSP00000503498.1:n.*255G>A
XM_011516203.1:c.4183G>A	XP_011514505.1:p.Glu1395Lys
XM_017012201.1:c.4255G>A	XP_016867690.1:p.Glu1419Lys
XR_001744756.1:n.4986G>A