Canonical Allele Identifier: CA1732869808

Gene: LAMB1

Linked Data

• dbSNP Id: rs1445103972

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107951768C>T , CM000669.2:g.107951768C>T	GRCh38
NC_000007.13:g.107592213C>T , CM000669.1:g.107592213C>T	GRCh37
NC_000007.12:g.107379449C>T	NCBI36
NG_023255.1:g.56592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.3294+241G>A MANE Select	ENSP00000222399.6:n.3294+241G>A
ENST00000393561.6:c.2883+241G>A	ENSP00000377191.2:n.2883+241G>A
ENST00000676574.1:c.3294+241G>A	ENSP00000503081.1:n.3294+241G>A
ENST00000676777.1:c.3294+241G>A	ENSP00000504756.1:n.3294+241G>A
ENST00000676920.1:c.2883+241G>A	ENSP00000503814.1:n.2883+241G>A
ENST00000677101.1:c.*2930+241G>A	ENSP00000503156.1:n.*2930+241G>A
ENST00000677144.1:c.*113+241G>A	ENSP00000503049.1:n.*113+241G>A
ENST00000677485.1:n.4518+241G>A
ENST00000677588.1:c.3294+241G>A	ENSP00000502938.1:n.3294+241G>A
ENST00000677652.1:n.3483+241G>A
ENST00000677793.1:c.3079+1762G>A	ENSP00000504020.1:n.3079+1762G>A
ENST00000677801.1:c.2883+241G>A	ENSP00000503438.1:n.2883+241G>A
ENST00000677994.1:n.3460+241G>A
ENST00000678232.1:n.3483+241G>A
ENST00000678266.1:n.3436+241G>A
ENST00000678346.1:c.*2930+241G>A	ENSP00000504349.1:n.*2930+241G>A
ENST00000678698.1:c.2883+241G>A	ENSP00000503198.1:n.2883+241G>A
ENST00000678704.1:c.*1876+241G>A	ENSP00000504589.1:n.*1876+241G>A
ENST00000678892.1:c.3294+241G>A	ENSP00000504841.1:n.3294+241G>A
ENST00000679173.1:n.3483+241G>A
ENST00000679200.1:c.2883+241G>A	ENSP00000503498.1:n.2883+241G>A
ENST00000679244.1:c.3294+241G>A	ENSP00000504656.1:n.3294+241G>A
ENST00000222399.10:c.3294+241G>A	ENSP00000222399.6:n.3294+241G>A
ENST00000393561.5:c.3366+241G>A	ENSP00000377191.1:n.3366+241G>A
ENST00000476039.1:n.335+241G>A
ENST00000479448.1:n.82+241G>A
NM_002291.2:c.3294+241G>A	NP_002282.2:n.3294+241G>A
XM_011516203.1:c.3294+241G>A	XP_011514505.1:n.3294+241G>A
XM_017012201.1:c.3366+241G>A	XP_016867690.1:n.3366+241G>A
XM_017012202.1:c.3366+241G>A	XP_016867691.1:n.3366+241G>A
XR_001744756.1:n.4097+241G>A
NM_002291.3:c.3294+241G>A MANE Select	NP_002282.2:n.3294+241G>A