Canonical Allele Identifier: CA368864242

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931474A>C , CM000669.2:g.107931474A>C GRCh38
NC_000007.13:g.107571919A>C , CM000669.1:g.107571919A>C GRCh37
NC_000007.12:g.107359155A>C NCBI36
NG_023255.1:g.76886T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4419T>G (LAMB1) MANE Select ENSP00000222399.6:p.Asp1473Glu
ENST00000393561.6:c.4008T>G (LAMB1) ENSP00000377191.2:p.Asp1336Glu
ENST00000468518.2:n.2653T>G (LAMB1)
ENST00000468999.2:n.2567T>G (LAMB1)
ENST00000474380.2:n.1234T>G (LAMB1)
ENST00000676574.1:c.*335T>G (LAMB1) ENSP00000503081.1:n.*335T>G
ENST00000676744.1:n.265T>G (LAMB1)
ENST00000676777.1:c.4419T>G (LAMB1) ENSP00000504756.1:p.Asp1473Glu
ENST00000677101.1:c.*4055T>G (LAMB1) ENSP00000503156.1:n.*4055T>G
ENST00000677144.1:c.*1238T>G (LAMB1) ENSP00000503049.1:n.*1238T>G
ENST00000677485.1:n.5643T>G (LAMB1)
ENST00000677588.1:c.*650T>G (LAMB1) ENSP00000502938.1:n.*650T>G
ENST00000677793.1:c.4107T>G (LAMB1) ENSP00000504020.1:p.Asp1369Glu
ENST00000677801.1:c.*248T>G (LAMB1) ENSP00000503438.1:n.*248T>G
ENST00000678232.1:n.4608T>G (LAMB1)
ENST00000678310.1:n.2588T>G (LAMB1)
ENST00000678698.1:c.*491T>G (LAMB1) ENSP00000503198.1:n.*491T>G
ENST00000678704.1:c.*3001T>G (LAMB1) ENSP00000504589.1:n.*3001T>G
ENST00000678892.1:c.*491T>G (LAMB1) ENSP00000504841.1:n.*491T>G
ENST00000679200.1:c.*491T>G (LAMB1) ENSP00000503498.1:n.*491T>G
ENST00000222399.10:c.4419T>G (LAMB1) ENSP00000222399.6:p.Asp1473Glu
ENST00000393561.5:c.4491T>G (LAMB1) ENSP00000377191.1:p.Asp1497Glu
ENST00000417551.5:c.*168A>C (DLD) ENSP00000390667.1:n.*168A>C
ENST00000468518.1:n.478T>G (LAMB1)
ENST00000474380.1:n.656T>G (LAMB1)
NM_002291.2:c.4419T>G (LAMB1) NP_002282.2:p.Asp1473Glu
XM_017012201.1:c.4491T>G (LAMB1) XP_016867690.1:p.Asp1497Glu
XR_001744756.1:n.5338T>G (LAMB1)
NM_002291.3:c.4419T>G (LAMB1) MANE Select NP_002282.2:p.Asp1473Glu