Canonical Allele Identifier: CA164271805

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107935910T>C , CM000669.2:g.107935910T>C	GRCh38
NC_000007.13:g.107576355T>C , CM000669.1:g.107576355T>C	GRCh37
NC_000007.12:g.107363591T>C	NCBI36
NG_023255.1:g.72450A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.3947-254A>G MANE Select	NP_002282.2:n.3947-254A>G
ENST00000222399.11:c.3947-254A>G MANE Select	ENSP00000222399.6:n.3947-254A>G
NM_002291.2:c.3947-254A>G	NP_002282.2:n.3947-254A>G
ENST00000222399.10:c.3947-254A>G	ENSP00000222399.6:n.3947-254A>G
ENST00000393561.5:c.4019-254A>G	ENSP00000377191.1:n.4019-254A>G
ENST00000393561.6:c.3536-254A>G	ENSP00000377191.2:n.3536-254A>G
ENST00000468999.2:n.2095-254A>G
ENST00000470995.1:n.167-254A>G
ENST00000474380.1:n.68-254A>G
ENST00000474380.2:n.762-254A>G
ENST00000491196.1:n.79-254A>G
ENST00000491196.2:n.227-254A>G
ENST00000676574.1:c.3947-254A>G	ENSP00000503081.1:n.3947-254A>G
ENST00000676777.1:c.3947-254A>G	ENSP00000504756.1:n.3947-254A>G
ENST00000677101.1:c.*3583-254A>G	ENSP00000503156.1:n.*3583-254A>G
ENST00000677144.1:c.*766-254A>G	ENSP00000503049.1:n.*766-254A>G
ENST00000677485.1:n.5171-254A>G
ENST00000677588.1:c.*178-254A>G	ENSP00000502938.1:n.*178-254A>G
ENST00000677652.1:n.4136-254A>G
ENST00000677793.1:c.3635-254A>G	ENSP00000504020.1:n.3635-254A>G
ENST00000677801.1:c.3536-254A>G	ENSP00000503438.1:n.3536-254A>G
ENST00000678232.1:n.4136-254A>G
ENST00000678310.1:n.2000-254A>G
ENST00000678346.1:c.*3308-254A>G	ENSP00000504349.1:n.*3308-254A>G
ENST00000678698.1:c.*19-254A>G	ENSP00000503198.1:n.*19-254A>G
ENST00000678704.1:c.*2529-254A>G	ENSP00000504589.1:n.*2529-254A>G
ENST00000678892.1:c.*19-254A>G	ENSP00000504841.1:n.*19-254A>G
ENST00000679173.1:n.4948A>G
ENST00000679200.1:c.*19-254A>G	ENSP00000503498.1:n.*19-254A>G
XM_011516203.1:c.3947-254A>G	XP_011514505.1:n.3947-254A>G
XM_017012201.1:c.4019-254A>G	XP_016867690.1:n.4019-254A>G
XR_001744756.1:n.4750-254A>G