Canonical Allele Identifier: CA368863875

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931387A>T , CM000669.2:g.107931387A>T GRCh38
NC_000007.13:g.107571832A>T , CM000669.1:g.107571832A>T GRCh37
NC_000007.12:g.107359068A>T NCBI36
NG_023255.1:g.76973T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4506T>A (LAMB1) MANE Select ENSP00000222399.6:p.Asn1502Lys
ENST00000393561.6:c.4095T>A (LAMB1) ENSP00000377191.2:p.Asn1365Lys
ENST00000468518.2:n.2740T>A (LAMB1)
ENST00000468999.2:n.2654T>A (LAMB1)
ENST00000474380.2:n.1321T>A (LAMB1)
ENST00000676574.1:c.*422T>A (LAMB1) ENSP00000503081.1:n.*422T>A
ENST00000676744.1:n.352T>A (LAMB1)
ENST00000676777.1:c.4506T>A (LAMB1) ENSP00000504756.1:p.Asn1502Lys
ENST00000677101.1:c.*4142T>A (LAMB1) ENSP00000503156.1:n.*4142T>A
ENST00000677144.1:c.*1325T>A (LAMB1) ENSP00000503049.1:n.*1325T>A
ENST00000677485.1:n.5730T>A (LAMB1)
ENST00000677588.1:c.*737T>A (LAMB1) ENSP00000502938.1:n.*737T>A
ENST00000677793.1:c.4194T>A (LAMB1) ENSP00000504020.1:p.Asn1398Lys
ENST00000677801.1:c.*335T>A (LAMB1) ENSP00000503438.1:n.*335T>A
ENST00000677883.1:n.17T>A (LAMB1)
ENST00000678232.1:n.4695T>A (LAMB1)
ENST00000678310.1:n.2675T>A (LAMB1)
ENST00000678698.1:c.*578T>A (LAMB1) ENSP00000503198.1:n.*578T>A
ENST00000678704.1:c.*3088T>A (LAMB1) ENSP00000504589.1:n.*3088T>A
ENST00000678892.1:c.*578T>A (LAMB1) ENSP00000504841.1:n.*578T>A
ENST00000679200.1:c.*578T>A (LAMB1) ENSP00000503498.1:n.*578T>A
ENST00000222399.10:c.4506T>A (LAMB1) ENSP00000222399.6:p.Asn1502Lys
ENST00000393561.5:c.4578T>A (LAMB1) ENSP00000377191.1:p.Asn1526Lys
ENST00000417551.5:c.*125-44A>T (DLD) ENSP00000390667.1:n.*125-44A>T
ENST00000468518.1:n.565T>A (LAMB1)
ENST00000474380.1:n.743T>A (LAMB1)
NM_002291.2:c.4506T>A (LAMB1) NP_002282.2:p.Asn1502Lys
XM_017012201.1:c.4578T>A (LAMB1) XP_016867690.1:p.Asn1526Lys
XR_001744756.1:n.5425T>A (LAMB1)
NM_002291.3:c.4506T>A (LAMB1) MANE Select NP_002282.2:p.Asn1502Lys