Canonical Allele Identifier: CA368863857

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931383T>A , CM000669.2:g.107931383T>A GRCh38
NC_000007.13:g.107571828T>A , CM000669.1:g.107571828T>A GRCh37
NC_000007.12:g.107359064T>A NCBI36
NG_023255.1:g.76977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4510A>T (LAMB1) MANE Select ENSP00000222399.6:p.Ile1504Phe
ENST00000393561.6:c.4099A>T (LAMB1) ENSP00000377191.2:p.Ile1367Phe
ENST00000468518.2:n.2744A>T (LAMB1)
ENST00000468999.2:n.2658A>T (LAMB1)
ENST00000474380.2:n.1325A>T (LAMB1)
ENST00000676574.1:c.*426A>T (LAMB1) ENSP00000503081.1:n.*426A>T
ENST00000676744.1:n.356A>T (LAMB1)
ENST00000676777.1:c.4510A>T (LAMB1) ENSP00000504756.1:p.Ile1504Phe
ENST00000677101.1:c.*4146A>T (LAMB1) ENSP00000503156.1:n.*4146A>T
ENST00000677144.1:c.*1329A>T (LAMB1) ENSP00000503049.1:n.*1329A>T
ENST00000677485.1:n.5734A>T (LAMB1)
ENST00000677588.1:c.*741A>T (LAMB1) ENSP00000502938.1:n.*741A>T
ENST00000677793.1:c.4198A>T (LAMB1) ENSP00000504020.1:p.Ile1400Phe
ENST00000677801.1:c.*339A>T (LAMB1) ENSP00000503438.1:n.*339A>T
ENST00000677883.1:n.21A>T (LAMB1)
ENST00000678232.1:n.4699A>T (LAMB1)
ENST00000678310.1:n.2679A>T (LAMB1)
ENST00000678698.1:c.*582A>T (LAMB1) ENSP00000503198.1:n.*582A>T
ENST00000678704.1:c.*3092A>T (LAMB1) ENSP00000504589.1:n.*3092A>T
ENST00000678892.1:c.*582A>T (LAMB1) ENSP00000504841.1:n.*582A>T
ENST00000679200.1:c.*582A>T (LAMB1) ENSP00000503498.1:n.*582A>T
ENST00000222399.10:c.4510A>T (LAMB1) ENSP00000222399.6:p.Ile1504Phe
ENST00000393561.5:c.4582A>T (LAMB1) ENSP00000377191.1:p.Ile1528Phe
ENST00000417551.5:c.*125-48T>A (DLD) ENSP00000390667.1:n.*125-48T>A
ENST00000468518.1:n.569A>T (LAMB1)
ENST00000474380.1:n.747A>T (LAMB1)
NM_002291.2:c.4510A>T (LAMB1) NP_002282.2:p.Ile1504Phe
XM_017012201.1:c.4582A>T (LAMB1) XP_016867690.1:p.Ile1528Phe
XR_001744756.1:n.5429A>T (LAMB1)
NM_002291.3:c.4510A>T (LAMB1) MANE Select NP_002282.2:p.Ile1504Phe