Canonical Allele Identifier: CA368863840

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931379T>G , CM000669.2:g.107931379T>G GRCh38
NC_000007.13:g.107571824T>G , CM000669.1:g.107571824T>G GRCh37
NC_000007.12:g.107359060T>G NCBI36
NG_023255.1:g.76981A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4514A>C (LAMB1) MANE Select ENSP00000222399.6:p.Lys1505Thr
ENST00000393561.6:c.4103A>C (LAMB1) ENSP00000377191.2:p.Lys1368Thr
ENST00000468518.2:n.2748A>C (LAMB1)
ENST00000468999.2:n.2662A>C (LAMB1)
ENST00000474380.2:n.1329A>C (LAMB1)
ENST00000676574.1:c.*430A>C (LAMB1) ENSP00000503081.1:n.*430A>C
ENST00000676744.1:n.360A>C (LAMB1)
ENST00000676777.1:c.4514A>C (LAMB1) ENSP00000504756.1:p.Lys1505Thr
ENST00000677101.1:c.*4150A>C (LAMB1) ENSP00000503156.1:n.*4150A>C
ENST00000677144.1:c.*1333A>C (LAMB1) ENSP00000503049.1:n.*1333A>C
ENST00000677485.1:n.5738A>C (LAMB1)
ENST00000677588.1:c.*745A>C (LAMB1) ENSP00000502938.1:n.*745A>C
ENST00000677793.1:c.4202A>C (LAMB1) ENSP00000504020.1:p.Lys1401Thr
ENST00000677801.1:c.*343A>C (LAMB1) ENSP00000503438.1:n.*343A>C
ENST00000677883.1:n.25A>C (LAMB1)
ENST00000678232.1:n.4703A>C (LAMB1)
ENST00000678310.1:n.2683A>C (LAMB1)
ENST00000678698.1:c.*586A>C (LAMB1) ENSP00000503198.1:n.*586A>C
ENST00000678704.1:c.*3096A>C (LAMB1) ENSP00000504589.1:n.*3096A>C
ENST00000678892.1:c.*586A>C (LAMB1) ENSP00000504841.1:n.*586A>C
ENST00000679200.1:c.*586A>C (LAMB1) ENSP00000503498.1:n.*586A>C
ENST00000222399.10:c.4514A>C (LAMB1) ENSP00000222399.6:p.Lys1505Thr
ENST00000393561.5:c.4586A>C (LAMB1) ENSP00000377191.1:p.Lys1529Thr
ENST00000417551.5:c.*125-52T>G (DLD) ENSP00000390667.1:n.*125-52T>G
ENST00000468518.1:n.573A>C (LAMB1)
ENST00000474380.1:n.751A>C (LAMB1)
NM_002291.2:c.4514A>C (LAMB1) NP_002282.2:p.Lys1505Thr
XM_017012201.1:c.4586A>C (LAMB1) XP_016867690.1:p.Lys1529Thr
XR_001744756.1:n.5433A>C (LAMB1)
NM_002291.3:c.4514A>C (LAMB1) MANE Select NP_002282.2:p.Lys1505Thr