Canonical Allele Identifier: CA164271337

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107935414C>G , CM000669.2:g.107935414C>G	GRCh38
NC_000007.13:g.107575859C>G , CM000669.1:g.107575859C>G	GRCh37
NC_000007.12:g.107363095C>G	NCBI36
NG_023255.1:g.72946G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4188+1G>C MANE Select	NP_002282.2:n.4188+1G>C
ENST00000222399.11:c.4188+1G>C MANE Select	ENSP00000222399.6:n.4188+1G>C
NM_002291.2:c.4188+1G>C	NP_002282.2:n.4188+1G>C
ENST00000222399.10:c.4188+1G>C	ENSP00000222399.6:n.4188+1G>C
ENST00000393561.5:c.4260+1G>C	ENSP00000377191.1:n.4260+1G>C
ENST00000393561.6:c.3777+1G>C	ENSP00000377191.2:n.3777+1G>C
ENST00000468999.2:n.2336+1G>C
ENST00000470995.1:n.409G>C
ENST00000474380.1:n.309+1G>C
ENST00000474380.2:n.1003+1G>C
ENST00000491196.1:n.321G>C
ENST00000491196.2:n.469G>C
ENST00000676574.1:c.4188+1G>C	ENSP00000503081.1:n.4188+1G>C
ENST00000676777.1:c.4188+1G>C	ENSP00000504756.1:n.4188+1G>C
ENST00000677101.1:c.*3824+1G>C	ENSP00000503156.1:n.*3824+1G>C
ENST00000677144.1:c.*1007+1G>C	ENSP00000503049.1:n.*1007+1G>C
ENST00000677485.1:n.5412+1G>C
ENST00000677588.1:c.*419+1G>C	ENSP00000502938.1:n.*419+1G>C
ENST00000677652.1:n.4378G>C
ENST00000677793.1:c.3876+1G>C	ENSP00000504020.1:n.3876+1G>C
ENST00000677801.1:c.3777+1G>C	ENSP00000503438.1:n.3777+1G>C
ENST00000678232.1:n.4377+1G>C
ENST00000678310.1:n.2241+1G>C
ENST00000678346.1:c.*3550G>C	ENSP00000504349.1:n.*3550G>C
ENST00000678698.1:c.*260+1G>C	ENSP00000503198.1:n.*260+1G>C
ENST00000678704.1:c.*2770+1G>C	ENSP00000504589.1:n.*2770+1G>C
ENST00000678892.1:c.*260+1G>C	ENSP00000504841.1:n.*260+1G>C
ENST00000679173.1:n.5444G>C
ENST00000679200.1:c.*260+1G>C	ENSP00000503498.1:n.*260+1G>C
XM_011516203.1:c.4188+1G>C	XP_011514505.1:n.4188+1G>C
XM_017012201.1:c.4260+1G>C	XP_016867690.1:n.4260+1G>C
XR_001744756.1:n.4991+1G>C