Canonical Allele Identifier: CA4435102

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107932377T>C , CM000669.2:g.107932377T>C	GRCh38
NC_000007.13:g.107572822T>C , CM000669.1:g.107572822T>C	GRCh37
NC_000007.12:g.107360058T>C	NCBI36
NG_023255.1:g.75983A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4189A>G MANE Select	NP_002282.2:p.Thr1397Ala
ENST00000222399.11:c.4189A>G MANE Select	ENSP00000222399.6:p.Thr1397Ala
NM_002291.2:c.4189A>G	NP_002282.2:p.Thr1397Ala
ENST00000222399.10:c.4189A>G	ENSP00000222399.6:p.Thr1397Ala
ENST00000393561.5:c.4261A>G	ENSP00000377191.1:p.Thr1421Ala
ENST00000393561.6:c.3778A>G	ENSP00000377191.2:p.Thr1260Ala
ENST00000468518.1:n.248A>G
ENST00000468518.2:n.2423A>G
ENST00000468999.2:n.2337A>G
ENST00000474380.1:n.426A>G
ENST00000474380.2:n.1004A>G
ENST00000676574.1:c.*105A>G	ENSP00000503081.1:n.*105A>G
ENST00000676777.1:c.4189A>G	ENSP00000504756.1:p.Thr1397Ala
ENST00000677101.1:c.*3825A>G	ENSP00000503156.1:n.*3825A>G
ENST00000677144.1:c.*1008A>G	ENSP00000503049.1:n.*1008A>G
ENST00000677485.1:n.5413A>G
ENST00000677588.1:c.*420A>G	ENSP00000502938.1:n.*420A>G
ENST00000677793.1:c.3877A>G	ENSP00000504020.1:p.Thr1293Ala
ENST00000677801.1:c.*18A>G	ENSP00000503438.1:n.*18A>G
ENST00000678232.1:n.4378A>G
ENST00000678310.1:n.2358A>G
ENST00000678698.1:c.*261A>G	ENSP00000503198.1:n.*261A>G
ENST00000678704.1:c.*2771A>G	ENSP00000504589.1:n.*2771A>G
ENST00000678892.1:c.*261A>G	ENSP00000504841.1:n.*261A>G
ENST00000679200.1:c.*261A>G	ENSP00000503498.1:n.*261A>G
XM_017012201.1:c.4261A>G	XP_016867690.1:p.Thr1421Ala
XR_001744756.1:n.5108A>G