Canonical Allele Identifier: CA368864095

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931439T>C , CM000669.2:g.107931439T>C GRCh38
NC_000007.13:g.107571884T>C , CM000669.1:g.107571884T>C GRCh37
NC_000007.12:g.107359120T>C NCBI36
NG_023255.1:g.76921A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4454A>G (LAMB1) MANE Select ENSP00000222399.6:p.Lys1485Arg
ENST00000393561.6:c.4043A>G (LAMB1) ENSP00000377191.2:p.Lys1348Arg
ENST00000468518.2:n.2688A>G (LAMB1)
ENST00000468999.2:n.2602A>G (LAMB1)
ENST00000474380.2:n.1269A>G (LAMB1)
ENST00000676574.1:c.*370A>G (LAMB1) ENSP00000503081.1:n.*370A>G
ENST00000676744.1:n.300A>G (LAMB1)
ENST00000676777.1:c.4454A>G (LAMB1) ENSP00000504756.1:p.Lys1485Arg
ENST00000677101.1:c.*4090A>G (LAMB1) ENSP00000503156.1:n.*4090A>G
ENST00000677144.1:c.*1273A>G (LAMB1) ENSP00000503049.1:n.*1273A>G
ENST00000677485.1:n.5678A>G (LAMB1)
ENST00000677588.1:c.*685A>G (LAMB1) ENSP00000502938.1:n.*685A>G
ENST00000677793.1:c.4142A>G (LAMB1) ENSP00000504020.1:p.Lys1381Arg
ENST00000677801.1:c.*283A>G (LAMB1) ENSP00000503438.1:n.*283A>G
ENST00000678232.1:n.4643A>G (LAMB1)
ENST00000678310.1:n.2623A>G (LAMB1)
ENST00000678698.1:c.*526A>G (LAMB1) ENSP00000503198.1:n.*526A>G
ENST00000678704.1:c.*3036A>G (LAMB1) ENSP00000504589.1:n.*3036A>G
ENST00000678892.1:c.*526A>G (LAMB1) ENSP00000504841.1:n.*526A>G
ENST00000679200.1:c.*526A>G (LAMB1) ENSP00000503498.1:n.*526A>G
ENST00000222399.10:c.4454A>G (LAMB1) ENSP00000222399.6:p.Lys1485Arg
ENST00000393561.5:c.4526A>G (LAMB1) ENSP00000377191.1:p.Lys1509Arg
ENST00000417551.5:c.*133T>C (DLD) ENSP00000390667.1:n.*133T>C
ENST00000468518.1:n.513A>G (LAMB1)
ENST00000474380.1:n.691A>G (LAMB1)
NM_002291.2:c.4454A>G (LAMB1) NP_002282.2:p.Lys1485Arg
XM_017012201.1:c.4526A>G (LAMB1) XP_016867690.1:p.Lys1509Arg
XR_001744756.1:n.5373A>G (LAMB1)
NM_002291.3:c.4454A>G (LAMB1) MANE Select NP_002282.2:p.Lys1485Arg