Canonical Allele Identifier: CA368863980

Linked Data

dbSNP Id: rs1215861348

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931411G>T , CM000669.2:g.107931411G>T GRCh38
NC_000007.13:g.107571856G>T , CM000669.1:g.107571856G>T GRCh37
NC_000007.12:g.107359092G>T NCBI36
NG_023255.1:g.76949C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4482C>A (LAMB1) MANE Select ENSP00000222399.6:p.Asp1494Glu
ENST00000393561.6:c.4071C>A (LAMB1) ENSP00000377191.2:p.Asp1357Glu
ENST00000468518.2:n.2716C>A (LAMB1)
ENST00000468999.2:n.2630C>A (LAMB1)
ENST00000474380.2:n.1297C>A (LAMB1)
ENST00000676574.1:c.*398C>A (LAMB1) ENSP00000503081.1:n.*398C>A
ENST00000676744.1:n.328C>A (LAMB1)
ENST00000676777.1:c.4482C>A (LAMB1) ENSP00000504756.1:p.Asp1494Glu
ENST00000677101.1:c.*4118C>A (LAMB1) ENSP00000503156.1:n.*4118C>A
ENST00000677144.1:c.*1301C>A (LAMB1) ENSP00000503049.1:n.*1301C>A
ENST00000677485.1:n.5706C>A (LAMB1)
ENST00000677588.1:c.*713C>A (LAMB1) ENSP00000502938.1:n.*713C>A
ENST00000677793.1:c.4170C>A (LAMB1) ENSP00000504020.1:p.Asp1390Glu
ENST00000677801.1:c.*311C>A (LAMB1) ENSP00000503438.1:n.*311C>A
ENST00000678232.1:n.4671C>A (LAMB1)
ENST00000678310.1:n.2651C>A (LAMB1)
ENST00000678698.1:c.*554C>A (LAMB1) ENSP00000503198.1:n.*554C>A
ENST00000678704.1:c.*3064C>A (LAMB1) ENSP00000504589.1:n.*3064C>A
ENST00000678892.1:c.*554C>A (LAMB1) ENSP00000504841.1:n.*554C>A
ENST00000679200.1:c.*554C>A (LAMB1) ENSP00000503498.1:n.*554C>A
ENST00000222399.10:c.4482C>A (LAMB1) ENSP00000222399.6:p.Asp1494Glu
ENST00000393561.5:c.4554C>A (LAMB1) ENSP00000377191.1:p.Asp1518Glu
ENST00000417551.5:c.*125-20G>T (DLD) ENSP00000390667.1:n.*125-20G>T
ENST00000468518.1:n.541C>A (LAMB1)
ENST00000474380.1:n.719C>A (LAMB1)
NM_002291.2:c.4482C>A (LAMB1) NP_002282.2:p.Asp1494Glu
XM_017012201.1:c.4554C>A (LAMB1) XP_016867690.1:p.Asp1518Glu
XR_001744756.1:n.5401C>A (LAMB1)
NM_002291.3:c.4482C>A (LAMB1) MANE Select NP_002282.2:p.Asp1494Glu