Canonical Allele Identifier: CA457111230

Linked Data

MyVariant Identifiers: chr7:g.107571840G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931395G>A , CM000669.2:g.107931395G>A GRCh38
NC_000007.13:g.107571840G>A , CM000669.1:g.107571840G>A GRCh37
NC_000007.12:g.107359076G>A NCBI36
NG_023255.1:g.76965C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4498C>T (LAMB1) MANE Select ENSP00000222399.6:p.Leu1500=
ENST00000393561.6:c.4087C>T (LAMB1) ENSP00000377191.2:p.Leu1363=
ENST00000468518.2:n.2732C>T (LAMB1)
ENST00000468999.2:n.2646C>T (LAMB1)
ENST00000474380.2:n.1313C>T (LAMB1)
ENST00000676574.1:c.*414C>T (LAMB1) ENSP00000503081.1:n.*414C>T
ENST00000676744.1:n.344C>T (LAMB1)
ENST00000676777.1:c.4498C>T (LAMB1) ENSP00000504756.1:p.Leu1500=
ENST00000677101.1:c.*4134C>T (LAMB1) ENSP00000503156.1:n.*4134C>T
ENST00000677144.1:c.*1317C>T (LAMB1) ENSP00000503049.1:n.*1317C>T
ENST00000677485.1:n.5722C>T (LAMB1)
ENST00000677588.1:c.*729C>T (LAMB1) ENSP00000502938.1:n.*729C>T
ENST00000677793.1:c.4186C>T (LAMB1) ENSP00000504020.1:p.Leu1396=
ENST00000677801.1:c.*327C>T (LAMB1) ENSP00000503438.1:n.*327C>T
ENST00000677883.1:n.9C>T (LAMB1)
ENST00000678232.1:n.4687C>T (LAMB1)
ENST00000678310.1:n.2667C>T (LAMB1)
ENST00000678698.1:c.*570C>T (LAMB1) ENSP00000503198.1:n.*570C>T
ENST00000678704.1:c.*3080C>T (LAMB1) ENSP00000504589.1:n.*3080C>T
ENST00000678892.1:c.*570C>T (LAMB1) ENSP00000504841.1:n.*570C>T
ENST00000679200.1:c.*570C>T (LAMB1) ENSP00000503498.1:n.*570C>T
ENST00000222399.10:c.4498C>T (LAMB1) ENSP00000222399.6:p.Leu1500=
ENST00000393561.5:c.4570C>T (LAMB1) ENSP00000377191.1:p.Leu1524=
ENST00000417551.5:c.*125-36G>A (DLD) ENSP00000390667.1:n.*125-36G>A
ENST00000468518.1:n.557C>T (LAMB1)
ENST00000474380.1:n.735C>T (LAMB1)
NM_002291.2:c.4498C>T (LAMB1) NP_002282.2:p.Leu1500=
XM_017012201.1:c.4570C>T (LAMB1) XP_016867690.1:p.Leu1524=
XR_001744756.1:n.5417C>T (LAMB1)
NM_002291.3:c.4498C>T (LAMB1) MANE Select NP_002282.2:p.Leu1500=