Canonical Allele Identifier: CA4435423

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107952179C>T , CM000669.2:g.107952179C>T	GRCh38
NC_000007.13:g.107592624C>T , CM000669.1:g.107592624C>T	GRCh37
NC_000007.12:g.107379860C>T	NCBI36
NG_023255.1:g.56181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.3124G>A MANE Select	ENSP00000222399.6:p.Gly1042Ser
ENST00000393561.6:c.2713G>A	ENSP00000377191.2:p.Gly905Ser
ENST00000676574.1:c.3124G>A	ENSP00000503081.1:p.Gly1042Ser
ENST00000676777.1:c.3124G>A	ENSP00000504756.1:p.Gly1042Ser
ENST00000676920.1:c.2713G>A	ENSP00000503814.1:p.Gly905Ser
ENST00000677101.1:c.*2760G>A	ENSP00000503156.1:n.*2760G>A
ENST00000677144.1:c.2892G>A	ENSP00000503049.1:p.Thr964=
ENST00000677485.1:n.4348G>A
ENST00000677588.1:c.3124G>A	ENSP00000502938.1:p.Gly1042Ser
ENST00000677652.1:n.3313G>A
ENST00000677793.1:c.3079+1351G>A	ENSP00000504020.1:n.3079+1351G>A
ENST00000677801.1:c.2713G>A	ENSP00000503438.1:p.Gly905Ser
ENST00000677994.1:n.3290G>A
ENST00000678232.1:n.3313G>A
ENST00000678266.1:n.3266G>A
ENST00000678346.1:c.*2760G>A	ENSP00000504349.1:n.*2760G>A
ENST00000678698.1:c.2713G>A	ENSP00000503198.1:p.Gly905Ser
ENST00000678704.1:c.*1706G>A	ENSP00000504589.1:n.*1706G>A
ENST00000678892.1:c.3124G>A	ENSP00000504841.1:p.Gly1042Ser
ENST00000679173.1:n.3313G>A
ENST00000679200.1:c.2713G>A	ENSP00000503498.1:p.Gly905Ser
ENST00000679244.1:c.3124G>A	ENSP00000504656.1:p.Gly1042Ser
ENST00000222399.10:c.3124G>A	ENSP00000222399.6:p.Gly1042Ser
ENST00000393561.5:c.3196G>A	ENSP00000377191.1:p.Gly1066Ser
ENST00000476039.1:n.165G>A
NM_002291.2:c.3124G>A	NP_002282.2:p.Gly1042Ser
XM_011516203.1:c.3124G>A	XP_011514505.1:p.Gly1042Ser
XM_017012201.1:c.3196G>A	XP_016867690.1:p.Gly1066Ser
XM_017012202.1:c.3196G>A	XP_016867691.1:p.Gly1066Ser
XR_001744756.1:n.3927G>A
NM_002291.3:c.3124G>A MANE Select	NP_002282.2:p.Gly1042Ser