Canonical Allele Identifier: CA1732871604
Community Standard Title: NM_002291.3(LAMB1):c.2931G= (p.Gln977=)
Gene: LAMB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107953678C= , CM000669.2:g.107953678C= GRCh38
NC_000007.13:g.107594123C= , CM000669.1:g.107594123C= GRCh37
NC_000007.12:g.107381359C= NCBI36
NG_023255.1:g.54682G=

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.2931G= MANE Select NP_002282.2:p.Gln977=
ENST00000222399.11:c.2931G= MANE Select ENSP00000222399.6:p.Gln977=
NM_002291.2:c.2931G= NP_002282.2:p.Gln977=
ENST00000222399.10:c.2931G= ENSP00000222399.6:p.Gln977=
ENST00000393561.5:c.3003G= ENSP00000377191.1:p.Gln1001=
ENST00000393561.6:c.2520G= ENSP00000377191.2:p.Gln840=
ENST00000676574.1:c.2931G= ENSP00000503081.1:p.Gln977=
ENST00000676777.1:c.2931G= ENSP00000504756.1:p.Gln977=
ENST00000676920.1:c.2520G= ENSP00000503814.1:p.Gln840=
ENST00000677101.1:c.*2567G= ENSP00000503156.1:n.*2567G=
ENST00000677144.1:c.2699G= ENSP00000503049.1:p.Ser900=
ENST00000677485.1:n.4155G=
ENST00000677588.1:c.2931G= ENSP00000502938.1:p.Gln977=
ENST00000677652.1:n.3120G=
ENST00000677793.1:c.2931G= ENSP00000504020.1:p.Gln977=
ENST00000677801.1:c.2520G= ENSP00000503438.1:p.Gln840=
ENST00000677994.1:n.3097G=
ENST00000678232.1:n.3120G=
ENST00000678266.1:n.3073G=
ENST00000678346.1:c.*2567G= ENSP00000504349.1:n.*2567G=
ENST00000678698.1:c.2520G= ENSP00000503198.1:p.Gln840=
ENST00000678704.1:c.*1513G= ENSP00000504589.1:n.*1513G=
ENST00000678892.1:c.2931G= ENSP00000504841.1:p.Gln977=
ENST00000679173.1:n.3120G=
ENST00000679200.1:c.2520G= ENSP00000503498.1:p.Gln840=
ENST00000679244.1:c.2931G= ENSP00000504656.1:p.Gln977=
XM_011516203.1:c.2931G= XP_011514505.1:p.Gln977=
XM_017012201.1:c.3003G= XP_016867690.1:p.Gln1001=
XM_017012202.1:c.3003G= XP_016867691.1:p.Gln1001=
XR_001744756.1:n.3734G=