Canonical Allele Identifier: CA368864176

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931459A>T , CM000669.2:g.107931459A>T GRCh38
NC_000007.13:g.107571904A>T , CM000669.1:g.107571904A>T GRCh37
NC_000007.12:g.107359140A>T NCBI36
NG_023255.1:g.76901T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4434T>A (LAMB1) MANE Select ENSP00000222399.6:p.Ser1478Arg
ENST00000393561.6:c.4023T>A (LAMB1) ENSP00000377191.2:p.Ser1341Arg
ENST00000468518.2:n.2668T>A (LAMB1)
ENST00000468999.2:n.2582T>A (LAMB1)
ENST00000474380.2:n.1249T>A (LAMB1)
ENST00000676574.1:c.*350T>A (LAMB1) ENSP00000503081.1:n.*350T>A
ENST00000676744.1:n.280T>A (LAMB1)
ENST00000676777.1:c.4434T>A (LAMB1) ENSP00000504756.1:p.Ser1478Arg
ENST00000677101.1:c.*4070T>A (LAMB1) ENSP00000503156.1:n.*4070T>A
ENST00000677144.1:c.*1253T>A (LAMB1) ENSP00000503049.1:n.*1253T>A
ENST00000677485.1:n.5658T>A (LAMB1)
ENST00000677588.1:c.*665T>A (LAMB1) ENSP00000502938.1:n.*665T>A
ENST00000677793.1:c.4122T>A (LAMB1) ENSP00000504020.1:p.Ser1374Arg
ENST00000677801.1:c.*263T>A (LAMB1) ENSP00000503438.1:n.*263T>A
ENST00000678232.1:n.4623T>A (LAMB1)
ENST00000678310.1:n.2603T>A (LAMB1)
ENST00000678698.1:c.*506T>A (LAMB1) ENSP00000503198.1:n.*506T>A
ENST00000678704.1:c.*3016T>A (LAMB1) ENSP00000504589.1:n.*3016T>A
ENST00000678892.1:c.*506T>A (LAMB1) ENSP00000504841.1:n.*506T>A
ENST00000679200.1:c.*506T>A (LAMB1) ENSP00000503498.1:n.*506T>A
ENST00000222399.10:c.4434T>A (LAMB1) ENSP00000222399.6:p.Ser1478Arg
ENST00000393561.5:c.4506T>A (LAMB1) ENSP00000377191.1:p.Ser1502Arg
ENST00000417551.5:c.*153A>T (DLD) ENSP00000390667.1:n.*153A>T
ENST00000468518.1:n.493T>A (LAMB1)
ENST00000474380.1:n.671T>A (LAMB1)
NM_002291.2:c.4434T>A (LAMB1) NP_002282.2:p.Ser1478Arg
XM_017012201.1:c.4506T>A (LAMB1) XP_016867690.1:p.Ser1502Arg
XR_001744756.1:n.5353T>A (LAMB1)
NM_002291.3:c.4434T>A (LAMB1) MANE Select NP_002282.2:p.Ser1478Arg