Canonical Allele Identifier: CA368863909

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931396C>A , CM000669.2:g.107931396C>A GRCh38
NC_000007.13:g.107571841C>A , CM000669.1:g.107571841C>A GRCh37
NC_000007.12:g.107359077C>A NCBI36
NG_023255.1:g.76964G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4497G>T (LAMB1) MANE Select ENSP00000222399.6:p.Glu1499Asp
ENST00000393561.6:c.4086G>T (LAMB1) ENSP00000377191.2:p.Glu1362Asp
ENST00000468518.2:n.2731G>T (LAMB1)
ENST00000468999.2:n.2645G>T (LAMB1)
ENST00000474380.2:n.1312G>T (LAMB1)
ENST00000676574.1:c.*413G>T (LAMB1) ENSP00000503081.1:n.*413G>T
ENST00000676744.1:n.343G>T (LAMB1)
ENST00000676777.1:c.4497G>T (LAMB1) ENSP00000504756.1:p.Glu1499Asp
ENST00000677101.1:c.*4133G>T (LAMB1) ENSP00000503156.1:n.*4133G>T
ENST00000677144.1:c.*1316G>T (LAMB1) ENSP00000503049.1:n.*1316G>T
ENST00000677485.1:n.5721G>T (LAMB1)
ENST00000677588.1:c.*728G>T (LAMB1) ENSP00000502938.1:n.*728G>T
ENST00000677793.1:c.4185G>T (LAMB1) ENSP00000504020.1:p.Glu1395Asp
ENST00000677801.1:c.*326G>T (LAMB1) ENSP00000503438.1:n.*326G>T
ENST00000677883.1:n.8G>T (LAMB1)
ENST00000678232.1:n.4686G>T (LAMB1)
ENST00000678310.1:n.2666G>T (LAMB1)
ENST00000678698.1:c.*569G>T (LAMB1) ENSP00000503198.1:n.*569G>T
ENST00000678704.1:c.*3079G>T (LAMB1) ENSP00000504589.1:n.*3079G>T
ENST00000678892.1:c.*569G>T (LAMB1) ENSP00000504841.1:n.*569G>T
ENST00000679200.1:c.*569G>T (LAMB1) ENSP00000503498.1:n.*569G>T
ENST00000222399.10:c.4497G>T (LAMB1) ENSP00000222399.6:p.Glu1499Asp
ENST00000393561.5:c.4569G>T (LAMB1) ENSP00000377191.1:p.Glu1523Asp
ENST00000417551.5:c.*125-35C>A (DLD) ENSP00000390667.1:n.*125-35C>A
ENST00000468518.1:n.556G>T (LAMB1)
ENST00000474380.1:n.734G>T (LAMB1)
NM_002291.2:c.4497G>T (LAMB1) NP_002282.2:p.Glu1499Asp
XM_017012201.1:c.4569G>T (LAMB1) XP_016867690.1:p.Glu1523Asp
XR_001744756.1:n.5416G>T (LAMB1)
NM_002291.3:c.4497G>T (LAMB1) MANE Select NP_002282.2:p.Glu1499Asp