Canonical Allele Identifier: CA368863880

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931388T>G , CM000669.2:g.107931388T>G GRCh38
NC_000007.13:g.107571833T>G , CM000669.1:g.107571833T>G GRCh37
NC_000007.12:g.107359069T>G NCBI36
NG_023255.1:g.76972A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4505A>C (LAMB1) MANE Select ENSP00000222399.6:p.Asn1502Thr
ENST00000393561.6:c.4094A>C (LAMB1) ENSP00000377191.2:p.Asn1365Thr
ENST00000468518.2:n.2739A>C (LAMB1)
ENST00000468999.2:n.2653A>C (LAMB1)
ENST00000474380.2:n.1320A>C (LAMB1)
ENST00000676574.1:c.*421A>C (LAMB1) ENSP00000503081.1:n.*421A>C
ENST00000676744.1:n.351A>C (LAMB1)
ENST00000676777.1:c.4505A>C (LAMB1) ENSP00000504756.1:p.Asn1502Thr
ENST00000677101.1:c.*4141A>C (LAMB1) ENSP00000503156.1:n.*4141A>C
ENST00000677144.1:c.*1324A>C (LAMB1) ENSP00000503049.1:n.*1324A>C
ENST00000677485.1:n.5729A>C (LAMB1)
ENST00000677588.1:c.*736A>C (LAMB1) ENSP00000502938.1:n.*736A>C
ENST00000677793.1:c.4193A>C (LAMB1) ENSP00000504020.1:p.Asn1398Thr
ENST00000677801.1:c.*334A>C (LAMB1) ENSP00000503438.1:n.*334A>C
ENST00000677883.1:n.16A>C (LAMB1)
ENST00000678232.1:n.4694A>C (LAMB1)
ENST00000678310.1:n.2674A>C (LAMB1)
ENST00000678698.1:c.*577A>C (LAMB1) ENSP00000503198.1:n.*577A>C
ENST00000678704.1:c.*3087A>C (LAMB1) ENSP00000504589.1:n.*3087A>C
ENST00000678892.1:c.*577A>C (LAMB1) ENSP00000504841.1:n.*577A>C
ENST00000679200.1:c.*577A>C (LAMB1) ENSP00000503498.1:n.*577A>C
ENST00000222399.10:c.4505A>C (LAMB1) ENSP00000222399.6:p.Asn1502Thr
ENST00000393561.5:c.4577A>C (LAMB1) ENSP00000377191.1:p.Asn1526Thr
ENST00000417551.5:c.*125-43T>G (DLD) ENSP00000390667.1:n.*125-43T>G
ENST00000468518.1:n.564A>C (LAMB1)
ENST00000474380.1:n.742A>C (LAMB1)
NM_002291.2:c.4505A>C (LAMB1) NP_002282.2:p.Asn1502Thr
XM_017012201.1:c.4577A>C (LAMB1) XP_016867690.1:p.Asn1526Thr
XR_001744756.1:n.5424A>C (LAMB1)
NM_002291.3:c.4505A>C (LAMB1) MANE Select NP_002282.2:p.Asn1502Thr