Canonical Allele Identifier: CA368860373

Linked Data

ClinVar Variation Id: 2080529
ClinVar RCV Id: RCV003001995

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107924228A>G , CM000669.2:g.107924228A>G GRCh38
NC_000007.13:g.107564673A>G , CM000669.1:g.107564673A>G GRCh37
NC_000007.12:g.107351909A>G NCBI36
NG_023255.1:g.84132T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.5224+2T>C (LAMB1) MANE Select ENSP00000222399.6:n.5224+2T>C
ENST00000393561.6:c.4813+2T>C (LAMB1) ENSP00000377191.2:n.4813+2T>C
ENST00000468518.2:n.3458+2T>C (LAMB1)
ENST00000468999.2:n.3372+2T>C (LAMB1)
ENST00000472714.2:n.695+2T>C (LAMB1)
ENST00000474380.2:n.2039+2T>C (LAMB1)
ENST00000676574.1:c.*1140+2T>C (LAMB1) ENSP00000503081.1:n.*1140+2T>C
ENST00000676744.1:n.1070+2T>C (LAMB1)
ENST00000677101.1:c.*4860+2T>C (LAMB1) ENSP00000503156.1:n.*4860+2T>C
ENST00000677144.1:c.*2043+2T>C (LAMB1) ENSP00000503049.1:n.*2043+2T>C
ENST00000677485.1:n.6448+2T>C (LAMB1)
ENST00000677588.1:c.*1455+2T>C (LAMB1) ENSP00000502938.1:n.*1455+2T>C
ENST00000677793.1:c.4912+2T>C (LAMB1) ENSP00000504020.1:n.4912+2T>C
ENST00000677801.1:c.*1053+2T>C (LAMB1) ENSP00000503438.1:n.*1053+2T>C
ENST00000677957.1:n.2623+2T>C (LAMB1)
ENST00000678310.1:n.3393+2T>C (LAMB1)
ENST00000678698.1:c.*1296+2T>C (LAMB1) ENSP00000503198.1:n.*1296+2T>C
ENST00000678704.1:c.*3806+2T>C (LAMB1) ENSP00000504589.1:n.*3806+2T>C
ENST00000678892.1:c.*1296+2T>C (LAMB1) ENSP00000504841.1:n.*1296+2T>C
ENST00000678984.1:n.4120+2T>C (LAMB1)
ENST00000679200.1:c.*1296+2T>C (LAMB1) ENSP00000503498.1:n.*1296+2T>C
ENST00000222399.10:c.5224+2T>C (LAMB1) ENSP00000222399.6:n.5224+2T>C
ENST00000393561.5:c.5296+2T>C (LAMB1) ENSP00000377191.1:n.5296+2T>C
ENST00000417551.5:c.*124+4845A>G (DLD) ENSP00000390667.1:n.*124+4845A>G
ENST00000472714.1:n.1251+2T>C (LAMB1)
NM_002291.2:c.5224+2T>C (LAMB1) NP_002282.2:n.5224+2T>C
XM_017012201.1:c.5296+2T>C (LAMB1) XP_016867690.1:n.5296+2T>C
XR_001744756.1:n.6143+2T>C (LAMB1)
NM_002291.3:c.5224+2T>C (LAMB1) MANE Select NP_002282.2:n.5224+2T>C