Canonical Allele Identifier: CA368863899

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931392T>C , CM000669.2:g.107931392T>C GRCh38
NC_000007.13:g.107571837T>C , CM000669.1:g.107571837T>C GRCh37
NC_000007.12:g.107359073T>C NCBI36
NG_023255.1:g.76968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4501A>G (LAMB1) MANE Select ENSP00000222399.6:p.Arg1501Gly
ENST00000393561.6:c.4090A>G (LAMB1) ENSP00000377191.2:p.Arg1364Gly
ENST00000468518.2:n.2735A>G (LAMB1)
ENST00000468999.2:n.2649A>G (LAMB1)
ENST00000474380.2:n.1316A>G (LAMB1)
ENST00000676574.1:c.*417A>G (LAMB1) ENSP00000503081.1:n.*417A>G
ENST00000676744.1:n.347A>G (LAMB1)
ENST00000676777.1:c.4501A>G (LAMB1) ENSP00000504756.1:p.Arg1501Gly
ENST00000677101.1:c.*4137A>G (LAMB1) ENSP00000503156.1:n.*4137A>G
ENST00000677144.1:c.*1320A>G (LAMB1) ENSP00000503049.1:n.*1320A>G
ENST00000677485.1:n.5725A>G (LAMB1)
ENST00000677588.1:c.*732A>G (LAMB1) ENSP00000502938.1:n.*732A>G
ENST00000677793.1:c.4189A>G (LAMB1) ENSP00000504020.1:p.Arg1397Gly
ENST00000677801.1:c.*330A>G (LAMB1) ENSP00000503438.1:n.*330A>G
ENST00000677883.1:n.12A>G (LAMB1)
ENST00000678232.1:n.4690A>G (LAMB1)
ENST00000678310.1:n.2670A>G (LAMB1)
ENST00000678698.1:c.*573A>G (LAMB1) ENSP00000503198.1:n.*573A>G
ENST00000678704.1:c.*3083A>G (LAMB1) ENSP00000504589.1:n.*3083A>G
ENST00000678892.1:c.*573A>G (LAMB1) ENSP00000504841.1:n.*573A>G
ENST00000679200.1:c.*573A>G (LAMB1) ENSP00000503498.1:n.*573A>G
ENST00000222399.10:c.4501A>G (LAMB1) ENSP00000222399.6:p.Arg1501Gly
ENST00000393561.5:c.4573A>G (LAMB1) ENSP00000377191.1:p.Arg1525Gly
ENST00000417551.5:c.*125-39T>C (DLD) ENSP00000390667.1:n.*125-39T>C
ENST00000468518.1:n.560A>G (LAMB1)
ENST00000474380.1:n.738A>G (LAMB1)
NM_002291.2:c.4501A>G (LAMB1) NP_002282.2:p.Arg1501Gly
XM_017012201.1:c.4573A>G (LAMB1) XP_016867690.1:p.Arg1525Gly
XR_001744756.1:n.5420A>G (LAMB1)
NM_002291.3:c.4501A>G (LAMB1) MANE Select NP_002282.2:p.Arg1501Gly