Canonical Allele Identifier: CA1732870589

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931415A= , CM000669.2:g.107931415A= GRCh38
NC_000007.13:g.107571860A= , CM000669.1:g.107571860A= GRCh37
NC_000007.12:g.107359096A= NCBI36
NG_023255.1:g.76945T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4478T= (LAMB1) MANE Select ENSP00000222399.6:p.Met1493=
ENST00000393561.6:c.4067T= (LAMB1) ENSP00000377191.2:p.Met1356=
ENST00000468518.2:n.2712T= (LAMB1)
ENST00000468999.2:n.2626T= (LAMB1)
ENST00000474380.2:n.1293T= (LAMB1)
ENST00000676574.1:c.*394T= (LAMB1) ENSP00000503081.1:n.*394T=
ENST00000676744.1:n.324T= (LAMB1)
ENST00000676777.1:c.4478T= (LAMB1) ENSP00000504756.1:p.Met1493=
ENST00000677101.1:c.*4114T= (LAMB1) ENSP00000503156.1:n.*4114T=
ENST00000677144.1:c.*1297T= (LAMB1) ENSP00000503049.1:n.*1297T=
ENST00000677485.1:n.5702T= (LAMB1)
ENST00000677588.1:c.*709T= (LAMB1) ENSP00000502938.1:n.*709T=
ENST00000677793.1:c.4166T= (LAMB1) ENSP00000504020.1:p.Met1389=
ENST00000677801.1:c.*307T= (LAMB1) ENSP00000503438.1:n.*307T=
ENST00000678232.1:n.4667T= (LAMB1)
ENST00000678310.1:n.2647T= (LAMB1)
ENST00000678698.1:c.*550T= (LAMB1) ENSP00000503198.1:n.*550T=
ENST00000678704.1:c.*3060T= (LAMB1) ENSP00000504589.1:n.*3060T=
ENST00000678892.1:c.*550T= (LAMB1) ENSP00000504841.1:n.*550T=
ENST00000679200.1:c.*550T= (LAMB1) ENSP00000503498.1:n.*550T=
ENST00000222399.10:c.4478T= (LAMB1) ENSP00000222399.6:p.Met1493=
ENST00000393561.5:c.4550T= (LAMB1) ENSP00000377191.1:p.Met1517=
ENST00000417551.5:c.*125-16A= (DLD) ENSP00000390667.1:n.*125-16A=
ENST00000468518.1:n.537T= (LAMB1)
ENST00000474380.1:n.715T= (LAMB1)
NM_002291.2:c.4478T= (LAMB1) NP_002282.2:p.Met1493=
XM_017012201.1:c.4550T= (LAMB1) XP_016867690.1:p.Met1517=
XR_001744756.1:n.5397T= (LAMB1)
NM_002291.3:c.4478T= (LAMB1) MANE Select NP_002282.2:p.Met1493=