Canonical Allele Identifier: CA4434762

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107923965T>C , CM000669.2:g.107923965T>C GRCh38
NC_000007.13:g.107564410T>C , CM000669.1:g.107564410T>C GRCh37
NC_000007.12:g.107351646T>C NCBI36
NG_023255.1:g.84395A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.5347A>G (LAMB1) MANE Select NP_002282.2:p.Ser1783Gly
ENST00000222399.11:c.5347A>G (LAMB1) MANE Select ENSP00000222399.6:p.Ser1783Gly
NM_002291.2:c.5347A>G (LAMB1) NP_002282.2:p.Ser1783Gly
ENST00000222399.10:c.5347A>G (LAMB1) ENSP00000222399.6:p.Ser1783Gly
ENST00000393561.5:c.5419A>G (LAMB1) ENSP00000377191.1:p.Ser1807Gly
ENST00000393561.6:c.4936A>G (LAMB1) ENSP00000377191.2:p.Ser1646Gly
ENST00000417551.5:c.*124+4582T>C (DLD) ENSP00000390667.1:n.*124+4582T>C
ENST00000468518.2:n.3581A>G (LAMB1)
ENST00000468999.2:n.3495A>G (LAMB1)
ENST00000472714.1:n.1374A>G (LAMB1)
ENST00000472714.2:n.818A>G (LAMB1)
ENST00000474380.2:n.2162A>G (LAMB1)
ENST00000676574.1:c.*1263A>G (LAMB1) ENSP00000503081.1:n.*1263A>G
ENST00000676744.1:n.1193A>G (LAMB1)
ENST00000677101.1:c.*4983A>G (LAMB1) ENSP00000503156.1:n.*4983A>G
ENST00000677144.1:c.*2166A>G (LAMB1) ENSP00000503049.1:n.*2166A>G
ENST00000677485.1:n.6571A>G (LAMB1)
ENST00000677588.1:c.*1578A>G (LAMB1) ENSP00000502938.1:n.*1578A>G
ENST00000677793.1:c.5035A>G (LAMB1) ENSP00000504020.1:p.Ser1679Gly
ENST00000677801.1:c.*1176A>G (LAMB1) ENSP00000503438.1:n.*1176A>G
ENST00000677957.1:n.2746A>G (LAMB1)
ENST00000678310.1:n.3516A>G (LAMB1)
ENST00000678698.1:c.*1419A>G (LAMB1) ENSP00000503198.1:n.*1419A>G
ENST00000678704.1:c.*3929A>G (LAMB1) ENSP00000504589.1:n.*3929A>G
ENST00000678892.1:c.*1419A>G (LAMB1) ENSP00000504841.1:n.*1419A>G
ENST00000678984.1:n.4243A>G (LAMB1)
ENST00000679200.1:c.*1419A>G (LAMB1) ENSP00000503498.1:n.*1419A>G
XM_017012201.1:c.5419A>G (LAMB1) XP_016867690.1:p.Ser1807Gly
XR_001744756.1:n.6266A>G (LAMB1)