Canonical Allele Identifier: CA4435466
Community Standard Title: NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)
Gene: LAMB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107953649G>A , CM000669.2:g.107953649G>A GRCh38
NC_000007.13:g.107594094G>A , CM000669.1:g.107594094G>A GRCh37
NC_000007.12:g.107381330G>A NCBI36
NG_023255.1:g.54711C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.2960C>T MANE Select NP_002282.2:p.Pro987Leu
ENST00000222399.11:c.2960C>T MANE Select ENSP00000222399.6:p.Pro987Leu
NM_002291.2:c.2960C>T NP_002282.2:p.Pro987Leu
ENST00000222399.10:c.2960C>T ENSP00000222399.6:p.Pro987Leu
ENST00000393561.5:c.3032C>T ENSP00000377191.1:p.Pro1011Leu
ENST00000393561.6:c.2549C>T ENSP00000377191.2:p.Pro850Leu
ENST00000476039.1:n.1C>T
ENST00000676574.1:c.2960C>T ENSP00000503081.1:p.Pro987Leu
ENST00000676777.1:c.2960C>T ENSP00000504756.1:p.Pro987Leu
ENST00000676920.1:c.2549C>T ENSP00000503814.1:p.Pro850Leu
ENST00000677101.1:c.*2596C>T ENSP00000503156.1:n.*2596C>T
ENST00000677144.1:c.2728C>T ENSP00000503049.1:p.Gln910Ter
ENST00000677485.1:n.4184C>T
ENST00000677588.1:c.2960C>T ENSP00000502938.1:p.Pro987Leu
ENST00000677652.1:n.3149C>T
ENST00000677793.1:c.2960C>T ENSP00000504020.1:p.Pro987Leu
ENST00000677801.1:c.2549C>T ENSP00000503438.1:p.Pro850Leu
ENST00000677994.1:n.3126C>T
ENST00000678232.1:n.3149C>T
ENST00000678266.1:n.3102C>T
ENST00000678346.1:c.*2596C>T ENSP00000504349.1:n.*2596C>T
ENST00000678698.1:c.2549C>T ENSP00000503198.1:p.Pro850Leu
ENST00000678704.1:c.*1542C>T ENSP00000504589.1:n.*1542C>T
ENST00000678892.1:c.2960C>T ENSP00000504841.1:p.Pro987Leu
ENST00000679173.1:n.3149C>T
ENST00000679200.1:c.2549C>T ENSP00000503498.1:p.Pro850Leu
ENST00000679244.1:c.2960C>T ENSP00000504656.1:p.Pro987Leu
XM_011516203.1:c.2960C>T XP_011514505.1:p.Pro987Leu
XM_017012201.1:c.3032C>T XP_016867690.1:p.Pro1011Leu
XM_017012202.1:c.3032C>T XP_016867691.1:p.Pro1011Leu
XR_001744756.1:n.3763C>T