Canonical Allele Identifier: CA4435122

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107935374G>T , CM000669.2:g.107935374G>T	GRCh38
NC_000007.13:g.107575819G>T , CM000669.1:g.107575819G>T	GRCh37
NC_000007.12:g.107363055G>T	NCBI36
NG_023255.1:g.72986C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4188+41C>A MANE Select	NP_002282.2:n.4188+41C>A
ENST00000222399.11:c.4188+41C>A MANE Select	ENSP00000222399.6:n.4188+41C>A
NM_002291.2:c.4188+41C>A	NP_002282.2:n.4188+41C>A
ENST00000222399.10:c.4188+41C>A	ENSP00000222399.6:n.4188+41C>A
ENST00000393561.5:c.4260+41C>A	ENSP00000377191.1:n.4260+41C>A
ENST00000393561.6:c.3777+41C>A	ENSP00000377191.2:n.3777+41C>A
ENST00000468999.2:n.2336+41C>A
ENST00000470995.1:n.449C>A
ENST00000474380.1:n.309+41C>A
ENST00000474380.2:n.1003+41C>A
ENST00000491196.1:n.361C>A
ENST00000491196.2:n.509C>A
ENST00000676574.1:c.4188+41C>A	ENSP00000503081.1:n.4188+41C>A
ENST00000676777.1:c.4188+41C>A	ENSP00000504756.1:n.4188+41C>A
ENST00000677101.1:c.*3824+41C>A	ENSP00000503156.1:n.*3824+41C>A
ENST00000677144.1:c.*1007+41C>A	ENSP00000503049.1:n.*1007+41C>A
ENST00000677485.1:n.5412+41C>A
ENST00000677588.1:c.*419+41C>A	ENSP00000502938.1:n.*419+41C>A
ENST00000677652.1:n.4418C>A
ENST00000677793.1:c.3876+41C>A	ENSP00000504020.1:n.3876+41C>A
ENST00000677801.1:c.3777+41C>A	ENSP00000503438.1:n.3777+41C>A
ENST00000678232.1:n.4377+41C>A
ENST00000678310.1:n.2241+41C>A
ENST00000678346.1:c.*3590C>A	ENSP00000504349.1:n.*3590C>A
ENST00000678698.1:c.*260+41C>A	ENSP00000503198.1:n.*260+41C>A
ENST00000678704.1:c.*2770+41C>A	ENSP00000504589.1:n.*2770+41C>A
ENST00000678892.1:c.*260+41C>A	ENSP00000504841.1:n.*260+41C>A
ENST00000679200.1:c.*260+41C>A	ENSP00000503498.1:n.*260+41C>A
XM_011516203.1:c.4188+41C>A	XP_011514505.1:n.4188+41C>A
XM_017012201.1:c.4260+41C>A	XP_016867690.1:n.4260+41C>A
XR_001744756.1:n.4991+41C>A