Canonical Allele Identifier: CA368863854

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931382A>G , CM000669.2:g.107931382A>G GRCh38
NC_000007.13:g.107571827A>G , CM000669.1:g.107571827A>G GRCh37
NC_000007.12:g.107359063A>G NCBI36
NG_023255.1:g.76978T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4511T>C (LAMB1) MANE Select ENSP00000222399.6:p.Ile1504Thr
ENST00000393561.6:c.4100T>C (LAMB1) ENSP00000377191.2:p.Ile1367Thr
ENST00000468518.2:n.2745T>C (LAMB1)
ENST00000468999.2:n.2659T>C (LAMB1)
ENST00000474380.2:n.1326T>C (LAMB1)
ENST00000676574.1:c.*427T>C (LAMB1) ENSP00000503081.1:n.*427T>C
ENST00000676744.1:n.357T>C (LAMB1)
ENST00000676777.1:c.4511T>C (LAMB1) ENSP00000504756.1:p.Ile1504Thr
ENST00000677101.1:c.*4147T>C (LAMB1) ENSP00000503156.1:n.*4147T>C
ENST00000677144.1:c.*1330T>C (LAMB1) ENSP00000503049.1:n.*1330T>C
ENST00000677485.1:n.5735T>C (LAMB1)
ENST00000677588.1:c.*742T>C (LAMB1) ENSP00000502938.1:n.*742T>C
ENST00000677793.1:c.4199T>C (LAMB1) ENSP00000504020.1:p.Ile1400Thr
ENST00000677801.1:c.*340T>C (LAMB1) ENSP00000503438.1:n.*340T>C
ENST00000677883.1:n.22T>C (LAMB1)
ENST00000678232.1:n.4700T>C (LAMB1)
ENST00000678310.1:n.2680T>C (LAMB1)
ENST00000678698.1:c.*583T>C (LAMB1) ENSP00000503198.1:n.*583T>C
ENST00000678704.1:c.*3093T>C (LAMB1) ENSP00000504589.1:n.*3093T>C
ENST00000678892.1:c.*583T>C (LAMB1) ENSP00000504841.1:n.*583T>C
ENST00000679200.1:c.*583T>C (LAMB1) ENSP00000503498.1:n.*583T>C
ENST00000222399.10:c.4511T>C (LAMB1) ENSP00000222399.6:p.Ile1504Thr
ENST00000393561.5:c.4583T>C (LAMB1) ENSP00000377191.1:p.Ile1528Thr
ENST00000417551.5:c.*125-49A>G (DLD) ENSP00000390667.1:n.*125-49A>G
ENST00000468518.1:n.570T>C (LAMB1)
ENST00000474380.1:n.748T>C (LAMB1)
NM_002291.2:c.4511T>C (LAMB1) NP_002282.2:p.Ile1504Thr
XM_017012201.1:c.4583T>C (LAMB1) XP_016867690.1:p.Ile1528Thr
XR_001744756.1:n.5430T>C (LAMB1)
NM_002291.3:c.4511T>C (LAMB1) MANE Select NP_002282.2:p.Ile1504Thr