Canonical Allele Identifier: CA368863893

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931391C>G , CM000669.2:g.107931391C>G GRCh38
NC_000007.13:g.107571836C>G , CM000669.1:g.107571836C>G GRCh37
NC_000007.12:g.107359072C>G NCBI36
NG_023255.1:g.76969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4502G>C (LAMB1) MANE Select ENSP00000222399.6:p.Arg1501Thr
ENST00000393561.6:c.4091G>C (LAMB1) ENSP00000377191.2:p.Arg1364Thr
ENST00000468518.2:n.2736G>C (LAMB1)
ENST00000468999.2:n.2650G>C (LAMB1)
ENST00000474380.2:n.1317G>C (LAMB1)
ENST00000676574.1:c.*418G>C (LAMB1) ENSP00000503081.1:n.*418G>C
ENST00000676744.1:n.348G>C (LAMB1)
ENST00000676777.1:c.4502G>C (LAMB1) ENSP00000504756.1:p.Arg1501Thr
ENST00000677101.1:c.*4138G>C (LAMB1) ENSP00000503156.1:n.*4138G>C
ENST00000677144.1:c.*1321G>C (LAMB1) ENSP00000503049.1:n.*1321G>C
ENST00000677485.1:n.5726G>C (LAMB1)
ENST00000677588.1:c.*733G>C (LAMB1) ENSP00000502938.1:n.*733G>C
ENST00000677793.1:c.4190G>C (LAMB1) ENSP00000504020.1:p.Arg1397Thr
ENST00000677801.1:c.*331G>C (LAMB1) ENSP00000503438.1:n.*331G>C
ENST00000677883.1:n.13G>C (LAMB1)
ENST00000678232.1:n.4691G>C (LAMB1)
ENST00000678310.1:n.2671G>C (LAMB1)
ENST00000678698.1:c.*574G>C (LAMB1) ENSP00000503198.1:n.*574G>C
ENST00000678704.1:c.*3084G>C (LAMB1) ENSP00000504589.1:n.*3084G>C
ENST00000678892.1:c.*574G>C (LAMB1) ENSP00000504841.1:n.*574G>C
ENST00000679200.1:c.*574G>C (LAMB1) ENSP00000503498.1:n.*574G>C
ENST00000222399.10:c.4502G>C (LAMB1) ENSP00000222399.6:p.Arg1501Thr
ENST00000393561.5:c.4574G>C (LAMB1) ENSP00000377191.1:p.Arg1525Thr
ENST00000417551.5:c.*125-40C>G (DLD) ENSP00000390667.1:n.*125-40C>G
ENST00000468518.1:n.561G>C (LAMB1)
ENST00000474380.1:n.739G>C (LAMB1)
NM_002291.2:c.4502G>C (LAMB1) NP_002282.2:p.Arg1501Thr
XM_017012201.1:c.4574G>C (LAMB1) XP_016867690.1:p.Arg1525Thr
XR_001744756.1:n.5421G>C (LAMB1)
NM_002291.3:c.4502G>C (LAMB1) MANE Select NP_002282.2:p.Arg1501Thr