Canonical Allele Identifier: CA368863888

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931390T>A , CM000669.2:g.107931390T>A GRCh38
NC_000007.13:g.107571835T>A , CM000669.1:g.107571835T>A GRCh37
NC_000007.12:g.107359071T>A NCBI36
NG_023255.1:g.76970A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4503A>T (LAMB1) MANE Select ENSP00000222399.6:p.Arg1501Ser
ENST00000393561.6:c.4092A>T (LAMB1) ENSP00000377191.2:p.Arg1364Ser
ENST00000468518.2:n.2737A>T (LAMB1)
ENST00000468999.2:n.2651A>T (LAMB1)
ENST00000474380.2:n.1318A>T (LAMB1)
ENST00000676574.1:c.*419A>T (LAMB1) ENSP00000503081.1:n.*419A>T
ENST00000676744.1:n.349A>T (LAMB1)
ENST00000676777.1:c.4503A>T (LAMB1) ENSP00000504756.1:p.Arg1501Ser
ENST00000677101.1:c.*4139A>T (LAMB1) ENSP00000503156.1:n.*4139A>T
ENST00000677144.1:c.*1322A>T (LAMB1) ENSP00000503049.1:n.*1322A>T
ENST00000677485.1:n.5727A>T (LAMB1)
ENST00000677588.1:c.*734A>T (LAMB1) ENSP00000502938.1:n.*734A>T
ENST00000677793.1:c.4191A>T (LAMB1) ENSP00000504020.1:p.Arg1397Ser
ENST00000677801.1:c.*332A>T (LAMB1) ENSP00000503438.1:n.*332A>T
ENST00000677883.1:n.14A>T (LAMB1)
ENST00000678232.1:n.4692A>T (LAMB1)
ENST00000678310.1:n.2672A>T (LAMB1)
ENST00000678698.1:c.*575A>T (LAMB1) ENSP00000503198.1:n.*575A>T
ENST00000678704.1:c.*3085A>T (LAMB1) ENSP00000504589.1:n.*3085A>T
ENST00000678892.1:c.*575A>T (LAMB1) ENSP00000504841.1:n.*575A>T
ENST00000679200.1:c.*575A>T (LAMB1) ENSP00000503498.1:n.*575A>T
ENST00000222399.10:c.4503A>T (LAMB1) ENSP00000222399.6:p.Arg1501Ser
ENST00000393561.5:c.4575A>T (LAMB1) ENSP00000377191.1:p.Arg1525Ser
ENST00000417551.5:c.*125-41T>A (DLD) ENSP00000390667.1:n.*125-41T>A
ENST00000468518.1:n.562A>T (LAMB1)
ENST00000474380.1:n.740A>T (LAMB1)
NM_002291.2:c.4503A>T (LAMB1) NP_002282.2:p.Arg1501Ser
XM_017012201.1:c.4575A>T (LAMB1) XP_016867690.1:p.Arg1525Ser
XR_001744756.1:n.5422A>T (LAMB1)
NM_002291.3:c.4503A>T (LAMB1) MANE Select NP_002282.2:p.Arg1501Ser