Canonical Allele Identifier: CA368864099

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931440T>A , CM000669.2:g.107931440T>A GRCh38
NC_000007.13:g.107571885T>A , CM000669.1:g.107571885T>A GRCh37
NC_000007.12:g.107359121T>A NCBI36
NG_023255.1:g.76920A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4453A>T (LAMB1) MANE Select ENSP00000222399.6:p.Lys1485Ter
ENST00000393561.6:c.4042A>T (LAMB1) ENSP00000377191.2:p.Lys1348Ter
ENST00000468518.2:n.2687A>T (LAMB1)
ENST00000468999.2:n.2601A>T (LAMB1)
ENST00000474380.2:n.1268A>T (LAMB1)
ENST00000676574.1:c.*369A>T (LAMB1) ENSP00000503081.1:n.*369A>T
ENST00000676744.1:n.299A>T (LAMB1)
ENST00000676777.1:c.4453A>T (LAMB1) ENSP00000504756.1:p.Lys1485Ter
ENST00000677101.1:c.*4089A>T (LAMB1) ENSP00000503156.1:n.*4089A>T
ENST00000677144.1:c.*1272A>T (LAMB1) ENSP00000503049.1:n.*1272A>T
ENST00000677485.1:n.5677A>T (LAMB1)
ENST00000677588.1:c.*684A>T (LAMB1) ENSP00000502938.1:n.*684A>T
ENST00000677793.1:c.4141A>T (LAMB1) ENSP00000504020.1:p.Lys1381Ter
ENST00000677801.1:c.*282A>T (LAMB1) ENSP00000503438.1:n.*282A>T
ENST00000678232.1:n.4642A>T (LAMB1)
ENST00000678310.1:n.2622A>T (LAMB1)
ENST00000678698.1:c.*525A>T (LAMB1) ENSP00000503198.1:n.*525A>T
ENST00000678704.1:c.*3035A>T (LAMB1) ENSP00000504589.1:n.*3035A>T
ENST00000678892.1:c.*525A>T (LAMB1) ENSP00000504841.1:n.*525A>T
ENST00000679200.1:c.*525A>T (LAMB1) ENSP00000503498.1:n.*525A>T
ENST00000222399.10:c.4453A>T (LAMB1) ENSP00000222399.6:p.Lys1485Ter
ENST00000393561.5:c.4525A>T (LAMB1) ENSP00000377191.1:p.Lys1509Ter
ENST00000417551.5:c.*134T>A (DLD) ENSP00000390667.1:n.*134T>A
ENST00000468518.1:n.512A>T (LAMB1)
ENST00000474380.1:n.690A>T (LAMB1)
NM_002291.2:c.4453A>T (LAMB1) NP_002282.2:p.Lys1485Ter
XM_017012201.1:c.4525A>T (LAMB1) XP_016867690.1:p.Lys1509Ter
XR_001744756.1:n.5372A>T (LAMB1)
NM_002291.3:c.4453A>T (LAMB1) MANE Select NP_002282.2:p.Lys1485Ter