Canonical Allele Identifier: CA368863985

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931413C>A , CM000669.2:g.107931413C>A GRCh38
NC_000007.13:g.107571858C>A , CM000669.1:g.107571858C>A GRCh37
NC_000007.12:g.107359094C>A NCBI36
NG_023255.1:g.76947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4480G>T (LAMB1) MANE Select ENSP00000222399.6:p.Asp1494Tyr
ENST00000393561.6:c.4069G>T (LAMB1) ENSP00000377191.2:p.Asp1357Tyr
ENST00000468518.2:n.2714G>T (LAMB1)
ENST00000468999.2:n.2628G>T (LAMB1)
ENST00000474380.2:n.1295G>T (LAMB1)
ENST00000676574.1:c.*396G>T (LAMB1) ENSP00000503081.1:n.*396G>T
ENST00000676744.1:n.326G>T (LAMB1)
ENST00000676777.1:c.4480G>T (LAMB1) ENSP00000504756.1:p.Asp1494Tyr
ENST00000677101.1:c.*4116G>T (LAMB1) ENSP00000503156.1:n.*4116G>T
ENST00000677144.1:c.*1299G>T (LAMB1) ENSP00000503049.1:n.*1299G>T
ENST00000677485.1:n.5704G>T (LAMB1)
ENST00000677588.1:c.*711G>T (LAMB1) ENSP00000502938.1:n.*711G>T
ENST00000677793.1:c.4168G>T (LAMB1) ENSP00000504020.1:p.Asp1390Tyr
ENST00000677801.1:c.*309G>T (LAMB1) ENSP00000503438.1:n.*309G>T
ENST00000678232.1:n.4669G>T (LAMB1)
ENST00000678310.1:n.2649G>T (LAMB1)
ENST00000678698.1:c.*552G>T (LAMB1) ENSP00000503198.1:n.*552G>T
ENST00000678704.1:c.*3062G>T (LAMB1) ENSP00000504589.1:n.*3062G>T
ENST00000678892.1:c.*552G>T (LAMB1) ENSP00000504841.1:n.*552G>T
ENST00000679200.1:c.*552G>T (LAMB1) ENSP00000503498.1:n.*552G>T
ENST00000222399.10:c.4480G>T (LAMB1) ENSP00000222399.6:p.Asp1494Tyr
ENST00000393561.5:c.4552G>T (LAMB1) ENSP00000377191.1:p.Asp1518Tyr
ENST00000417551.5:c.*125-18C>A (DLD) ENSP00000390667.1:n.*125-18C>A
ENST00000468518.1:n.539G>T (LAMB1)
ENST00000474380.1:n.717G>T (LAMB1)
NM_002291.2:c.4480G>T (LAMB1) NP_002282.2:p.Asp1494Tyr
XM_017012201.1:c.4552G>T (LAMB1) XP_016867690.1:p.Asp1518Tyr
XR_001744756.1:n.5399G>T (LAMB1)
NM_002291.3:c.4480G>T (LAMB1) MANE Select NP_002282.2:p.Asp1494Tyr