Canonical Allele Identifier: CA368864245

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931475T>A , CM000669.2:g.107931475T>A GRCh38
NC_000007.13:g.107571920T>A , CM000669.1:g.107571920T>A GRCh37
NC_000007.12:g.107359156T>A NCBI36
NG_023255.1:g.76885A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4418A>T (LAMB1) MANE Select ENSP00000222399.6:p.Asp1473Val
ENST00000393561.6:c.4007A>T (LAMB1) ENSP00000377191.2:p.Asp1336Val
ENST00000468518.2:n.2652A>T (LAMB1)
ENST00000468999.2:n.2566A>T (LAMB1)
ENST00000474380.2:n.1233A>T (LAMB1)
ENST00000676574.1:c.*334A>T (LAMB1) ENSP00000503081.1:n.*334A>T
ENST00000676744.1:n.264A>T (LAMB1)
ENST00000676777.1:c.4418A>T (LAMB1) ENSP00000504756.1:p.Asp1473Val
ENST00000677101.1:c.*4054A>T (LAMB1) ENSP00000503156.1:n.*4054A>T
ENST00000677144.1:c.*1237A>T (LAMB1) ENSP00000503049.1:n.*1237A>T
ENST00000677485.1:n.5642A>T (LAMB1)
ENST00000677588.1:c.*649A>T (LAMB1) ENSP00000502938.1:n.*649A>T
ENST00000677793.1:c.4106A>T (LAMB1) ENSP00000504020.1:p.Asp1369Val
ENST00000677801.1:c.*247A>T (LAMB1) ENSP00000503438.1:n.*247A>T
ENST00000678232.1:n.4607A>T (LAMB1)
ENST00000678310.1:n.2587A>T (LAMB1)
ENST00000678698.1:c.*490A>T (LAMB1) ENSP00000503198.1:n.*490A>T
ENST00000678704.1:c.*3000A>T (LAMB1) ENSP00000504589.1:n.*3000A>T
ENST00000678892.1:c.*490A>T (LAMB1) ENSP00000504841.1:n.*490A>T
ENST00000679200.1:c.*490A>T (LAMB1) ENSP00000503498.1:n.*490A>T
ENST00000222399.10:c.4418A>T (LAMB1) ENSP00000222399.6:p.Asp1473Val
ENST00000393561.5:c.4490A>T (LAMB1) ENSP00000377191.1:p.Asp1497Val
ENST00000417551.5:c.*169T>A (DLD) ENSP00000390667.1:n.*169T>A
ENST00000468518.1:n.477A>T (LAMB1)
ENST00000474380.1:n.655A>T (LAMB1)
NM_002291.2:c.4418A>T (LAMB1) NP_002282.2:p.Asp1473Val
XM_017012201.1:c.4490A>T (LAMB1) XP_016867690.1:p.Asp1497Val
XR_001744756.1:n.5337A>T (LAMB1)
NM_002291.3:c.4418A>T (LAMB1) MANE Select NP_002282.2:p.Asp1473Val