Canonical Allele Identifier: CA457111231

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571841C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931396C>T , CM000669.2:g.107931396C>T	GRCh38
NC_000007.13:g.107571841C>T , CM000669.1:g.107571841C>T	GRCh37
NC_000007.12:g.107359077C>T	NCBI36
NG_023255.1:g.76964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4497G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1499=
ENST00000393561.6:c.4086G>A (LAMB1)	ENSP00000377191.2:p.Glu1362=
ENST00000468518.2:n.2731G>A (LAMB1)
ENST00000468999.2:n.2645G>A (LAMB1)
ENST00000474380.2:n.1312G>A (LAMB1)
ENST00000676574.1:c.*413G>A (LAMB1)	ENSP00000503081.1:n.*413G>A
ENST00000676744.1:n.343G>A (LAMB1)
ENST00000676777.1:c.4497G>A (LAMB1)	ENSP00000504756.1:p.Glu1499=
ENST00000677101.1:c.*4133G>A (LAMB1)	ENSP00000503156.1:n.*4133G>A
ENST00000677144.1:c.*1316G>A (LAMB1)	ENSP00000503049.1:n.*1316G>A
ENST00000677485.1:n.5721G>A (LAMB1)
ENST00000677588.1:c.*728G>A (LAMB1)	ENSP00000502938.1:n.*728G>A
ENST00000677793.1:c.4185G>A (LAMB1)	ENSP00000504020.1:p.Glu1395=
ENST00000677801.1:c.*326G>A (LAMB1)	ENSP00000503438.1:n.*326G>A
ENST00000677883.1:n.8G>A (LAMB1)
ENST00000678232.1:n.4686G>A (LAMB1)
ENST00000678310.1:n.2666G>A (LAMB1)
ENST00000678698.1:c.*569G>A (LAMB1)	ENSP00000503198.1:n.*569G>A
ENST00000678704.1:c.*3079G>A (LAMB1)	ENSP00000504589.1:n.*3079G>A
ENST00000678892.1:c.*569G>A (LAMB1)	ENSP00000504841.1:n.*569G>A
ENST00000679200.1:c.*569G>A (LAMB1)	ENSP00000503498.1:n.*569G>A
ENST00000222399.10:c.4497G>A (LAMB1)	ENSP00000222399.6:p.Glu1499=
ENST00000393561.5:c.4569G>A (LAMB1)	ENSP00000377191.1:p.Glu1523=
ENST00000417551.5:c.*125-35C>T (DLD)	ENSP00000390667.1:n.*125-35C>T
ENST00000468518.1:n.556G>A (LAMB1)
ENST00000474380.1:n.734G>A (LAMB1)
NM_002291.2:c.4497G>A (LAMB1)	NP_002282.2:p.Glu1499=
XM_017012201.1:c.4569G>A (LAMB1)	XP_016867690.1:p.Glu1523=
XR_001744756.1:n.5416G>A (LAMB1)
NM_002291.3:c.4497G>A (LAMB1) MANE Select	NP_002282.2:p.Glu1499=