Canonical Allele Identifier: CA368864181

Linked Data

dbSNP Id: rs2032708929

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931460C>T , CM000669.2:g.107931460C>T GRCh38
NC_000007.13:g.107571905C>T , CM000669.1:g.107571905C>T GRCh37
NC_000007.12:g.107359141C>T NCBI36
NG_023255.1:g.76900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4433G>A (LAMB1) MANE Select ENSP00000222399.6:p.Ser1478Asn
ENST00000393561.6:c.4022G>A (LAMB1) ENSP00000377191.2:p.Ser1341Asn
ENST00000468518.2:n.2667G>A (LAMB1)
ENST00000468999.2:n.2581G>A (LAMB1)
ENST00000474380.2:n.1248G>A (LAMB1)
ENST00000676574.1:c.*349G>A (LAMB1) ENSP00000503081.1:n.*349G>A
ENST00000676744.1:n.279G>A (LAMB1)
ENST00000676777.1:c.4433G>A (LAMB1) ENSP00000504756.1:p.Ser1478Asn
ENST00000677101.1:c.*4069G>A (LAMB1) ENSP00000503156.1:n.*4069G>A
ENST00000677144.1:c.*1252G>A (LAMB1) ENSP00000503049.1:n.*1252G>A
ENST00000677485.1:n.5657G>A (LAMB1)
ENST00000677588.1:c.*664G>A (LAMB1) ENSP00000502938.1:n.*664G>A
ENST00000677793.1:c.4121G>A (LAMB1) ENSP00000504020.1:p.Ser1374Asn
ENST00000677801.1:c.*262G>A (LAMB1) ENSP00000503438.1:n.*262G>A
ENST00000678232.1:n.4622G>A (LAMB1)
ENST00000678310.1:n.2602G>A (LAMB1)
ENST00000678698.1:c.*505G>A (LAMB1) ENSP00000503198.1:n.*505G>A
ENST00000678704.1:c.*3015G>A (LAMB1) ENSP00000504589.1:n.*3015G>A
ENST00000678892.1:c.*505G>A (LAMB1) ENSP00000504841.1:n.*505G>A
ENST00000679200.1:c.*505G>A (LAMB1) ENSP00000503498.1:n.*505G>A
ENST00000222399.10:c.4433G>A (LAMB1) ENSP00000222399.6:p.Ser1478Asn
ENST00000393561.5:c.4505G>A (LAMB1) ENSP00000377191.1:p.Ser1502Asn
ENST00000417551.5:c.*154C>T (DLD) ENSP00000390667.1:n.*154C>T
ENST00000468518.1:n.492G>A (LAMB1)
ENST00000474380.1:n.670G>A (LAMB1)
NM_002291.2:c.4433G>A (LAMB1) NP_002282.2:p.Ser1478Asn
XM_017012201.1:c.4505G>A (LAMB1) XP_016867690.1:p.Ser1502Asn
XR_001744756.1:n.5352G>A (LAMB1)
NM_002291.3:c.4433G>A (LAMB1) MANE Select NP_002282.2:p.Ser1478Asn