Canonical Allele Identifier: CA457111241

Linked Data

MyVariant Identifiers: chr7:g.107571874A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931429A>T , CM000669.2:g.107931429A>T GRCh38
NC_000007.13:g.107571874A>T , CM000669.1:g.107571874A>T GRCh37
NC_000007.12:g.107359110A>T NCBI36
NG_023255.1:g.76931T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4464T>A (LAMB1) MANE Select ENSP00000222399.6:p.Ala1488=
ENST00000393561.6:c.4053T>A (LAMB1) ENSP00000377191.2:p.Ala1351=
ENST00000468518.2:n.2698T>A (LAMB1)
ENST00000468999.2:n.2612T>A (LAMB1)
ENST00000474380.2:n.1279T>A (LAMB1)
ENST00000676574.1:c.*380T>A (LAMB1) ENSP00000503081.1:n.*380T>A
ENST00000676744.1:n.310T>A (LAMB1)
ENST00000676777.1:c.4464T>A (LAMB1) ENSP00000504756.1:p.Ala1488=
ENST00000677101.1:c.*4100T>A (LAMB1) ENSP00000503156.1:n.*4100T>A
ENST00000677144.1:c.*1283T>A (LAMB1) ENSP00000503049.1:n.*1283T>A
ENST00000677485.1:n.5688T>A (LAMB1)
ENST00000677588.1:c.*695T>A (LAMB1) ENSP00000502938.1:n.*695T>A
ENST00000677793.1:c.4152T>A (LAMB1) ENSP00000504020.1:p.Ala1384=
ENST00000677801.1:c.*293T>A (LAMB1) ENSP00000503438.1:n.*293T>A
ENST00000678232.1:n.4653T>A (LAMB1)
ENST00000678310.1:n.2633T>A (LAMB1)
ENST00000678698.1:c.*536T>A (LAMB1) ENSP00000503198.1:n.*536T>A
ENST00000678704.1:c.*3046T>A (LAMB1) ENSP00000504589.1:n.*3046T>A
ENST00000678892.1:c.*536T>A (LAMB1) ENSP00000504841.1:n.*536T>A
ENST00000679200.1:c.*536T>A (LAMB1) ENSP00000503498.1:n.*536T>A
ENST00000222399.10:c.4464T>A (LAMB1) ENSP00000222399.6:p.Ala1488=
ENST00000393561.5:c.4536T>A (LAMB1) ENSP00000377191.1:p.Ala1512=
ENST00000417551.5:c.*125-2A>T (DLD) ENSP00000390667.1:n.*125-2A>T
ENST00000468518.1:n.523T>A (LAMB1)
ENST00000474380.1:n.701T>A (LAMB1)
NM_002291.2:c.4464T>A (LAMB1) NP_002282.2:p.Ala1488=
XM_017012201.1:c.4536T>A (LAMB1) XP_016867690.1:p.Ala1512=
XR_001744756.1:n.5383T>A (LAMB1)
NM_002291.3:c.4464T>A (LAMB1) MANE Select NP_002282.2:p.Ala1488=