Canonical Allele Identifier: CA368863827

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931376T>C , CM000669.2:g.107931376T>C GRCh38
NC_000007.13:g.107571821T>C , CM000669.1:g.107571821T>C GRCh37
NC_000007.12:g.107359057T>C NCBI36
NG_023255.1:g.76984A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4517A>G (LAMB1) MANE Select ENSP00000222399.6:p.Gln1506Arg
ENST00000393561.6:c.4106A>G (LAMB1) ENSP00000377191.2:p.Gln1369Arg
ENST00000468518.2:n.2751A>G (LAMB1)
ENST00000468999.2:n.2665A>G (LAMB1)
ENST00000474380.2:n.1332A>G (LAMB1)
ENST00000676574.1:c.*433A>G (LAMB1) ENSP00000503081.1:n.*433A>G
ENST00000676744.1:n.363A>G (LAMB1)
ENST00000676777.1:c.4517A>G (LAMB1) ENSP00000504756.1:p.Gln1506Arg
ENST00000677101.1:c.*4153A>G (LAMB1) ENSP00000503156.1:n.*4153A>G
ENST00000677144.1:c.*1336A>G (LAMB1) ENSP00000503049.1:n.*1336A>G
ENST00000677485.1:n.5741A>G (LAMB1)
ENST00000677588.1:c.*748A>G (LAMB1) ENSP00000502938.1:n.*748A>G
ENST00000677793.1:c.4205A>G (LAMB1) ENSP00000504020.1:p.Gln1402Arg
ENST00000677801.1:c.*346A>G (LAMB1) ENSP00000503438.1:n.*346A>G
ENST00000677883.1:n.28A>G (LAMB1)
ENST00000678232.1:n.4706A>G (LAMB1)
ENST00000678310.1:n.2686A>G (LAMB1)
ENST00000678698.1:c.*589A>G (LAMB1) ENSP00000503198.1:n.*589A>G
ENST00000678704.1:c.*3099A>G (LAMB1) ENSP00000504589.1:n.*3099A>G
ENST00000678892.1:c.*589A>G (LAMB1) ENSP00000504841.1:n.*589A>G
ENST00000679200.1:c.*589A>G (LAMB1) ENSP00000503498.1:n.*589A>G
ENST00000222399.10:c.4517A>G (LAMB1) ENSP00000222399.6:p.Gln1506Arg
ENST00000393561.5:c.4589A>G (LAMB1) ENSP00000377191.1:p.Gln1530Arg
ENST00000417551.5:c.*125-55T>C (DLD) ENSP00000390667.1:n.*125-55T>C
ENST00000468518.1:n.576A>G (LAMB1)
ENST00000474380.1:n.754A>G (LAMB1)
NM_002291.2:c.4517A>G (LAMB1) NP_002282.2:p.Gln1506Arg
XM_017012201.1:c.4589A>G (LAMB1) XP_016867690.1:p.Gln1530Arg
XR_001744756.1:n.5436A>G (LAMB1)
NM_002291.3:c.4517A>G (LAMB1) MANE Select NP_002282.2:p.Gln1506Arg