Canonical Allele Identifier: CA368862975
Community Standard Title: NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107929509G>A , CM000669.2:g.107929509G>A GRCh38
NC_000007.13:g.107569954G>A , CM000669.1:g.107569954G>A GRCh37
NC_000007.12:g.107357190G>A NCBI36
NG_023255.1:g.78851C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.4648C>T (LAMB1) MANE Select NP_002282.2:p.Arg1550Ter
ENST00000222399.11:c.4648C>T (LAMB1) MANE Select ENSP00000222399.6:p.Arg1550Ter
NM_002291.2:c.4648C>T (LAMB1) NP_002282.2:p.Arg1550Ter
ENST00000222399.10:c.4648C>T (LAMB1) ENSP00000222399.6:p.Arg1550Ter
ENST00000393561.5:c.4720C>T (LAMB1) ENSP00000377191.1:p.Arg1574Ter
ENST00000393561.6:c.4237C>T (LAMB1) ENSP00000377191.2:p.Arg1413Ter
ENST00000417551.5:c.*125-1922G>A (DLD) ENSP00000390667.1:n.*125-1922G>A
ENST00000468518.2:n.2882C>T (LAMB1)
ENST00000468999.2:n.2796C>T (LAMB1)
ENST00000472714.1:n.469C>T (LAMB1)
ENST00000474380.1:n.885C>T (LAMB1)
ENST00000474380.2:n.1463C>T (LAMB1)
ENST00000676574.1:c.*564C>T (LAMB1) ENSP00000503081.1:n.*564C>T
ENST00000676592.1:n.284C>T (LAMB1)
ENST00000676744.1:n.494C>T (LAMB1)
ENST00000676777.1:c.4648C>T (LAMB1) ENSP00000504756.1:p.Arg1550Ter
ENST00000677101.1:c.*4284C>T (LAMB1) ENSP00000503156.1:n.*4284C>T
ENST00000677144.1:c.*1467C>T (LAMB1) ENSP00000503049.1:n.*1467C>T
ENST00000677485.1:n.5872C>T (LAMB1)
ENST00000677588.1:c.*879C>T (LAMB1) ENSP00000502938.1:n.*879C>T
ENST00000677793.1:c.4336C>T (LAMB1) ENSP00000504020.1:p.Arg1446Ter
ENST00000677801.1:c.*477C>T (LAMB1) ENSP00000503438.1:n.*477C>T
ENST00000677883.1:n.49-304C>T (LAMB1)
ENST00000678310.1:n.2817C>T (LAMB1)
ENST00000678698.1:c.*720C>T (LAMB1) ENSP00000503198.1:n.*720C>T
ENST00000678704.1:c.*3230C>T (LAMB1) ENSP00000504589.1:n.*3230C>T
ENST00000678892.1:c.*720C>T (LAMB1) ENSP00000504841.1:n.*720C>T
ENST00000679200.1:c.*720C>T (LAMB1) ENSP00000503498.1:n.*720C>T
XM_017012201.1:c.4720C>T (LAMB1) XP_016867690.1:p.Arg1574Ter
XR_001744756.1:n.5567C>T (LAMB1)