Canonical Allele Identifier: CA457111253

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571892A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931447A>G , CM000669.2:g.107931447A>G	GRCh38
NC_000007.13:g.107571892A>G , CM000669.1:g.107571892A>G	GRCh37
NC_000007.12:g.107359128A>G	NCBI36
NG_023255.1:g.76913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4446T>C (LAMB1) MANE Select	ENSP00000222399.6:p.Ile1482=
ENST00000393561.6:c.4035T>C (LAMB1)	ENSP00000377191.2:p.Ile1345=
ENST00000468518.2:n.2680T>C (LAMB1)
ENST00000468999.2:n.2594T>C (LAMB1)
ENST00000474380.2:n.1261T>C (LAMB1)
ENST00000676574.1:c.*362T>C (LAMB1)	ENSP00000503081.1:n.*362T>C
ENST00000676744.1:n.292T>C (LAMB1)
ENST00000676777.1:c.4446T>C (LAMB1)	ENSP00000504756.1:p.Ile1482=
ENST00000677101.1:c.*4082T>C (LAMB1)	ENSP00000503156.1:n.*4082T>C
ENST00000677144.1:c.*1265T>C (LAMB1)	ENSP00000503049.1:n.*1265T>C
ENST00000677485.1:n.5670T>C (LAMB1)
ENST00000677588.1:c.*677T>C (LAMB1)	ENSP00000502938.1:n.*677T>C
ENST00000677793.1:c.4134T>C (LAMB1)	ENSP00000504020.1:p.Ile1378=
ENST00000677801.1:c.*275T>C (LAMB1)	ENSP00000503438.1:n.*275T>C
ENST00000678232.1:n.4635T>C (LAMB1)
ENST00000678310.1:n.2615T>C (LAMB1)
ENST00000678698.1:c.*518T>C (LAMB1)	ENSP00000503198.1:n.*518T>C
ENST00000678704.1:c.*3028T>C (LAMB1)	ENSP00000504589.1:n.*3028T>C
ENST00000678892.1:c.*518T>C (LAMB1)	ENSP00000504841.1:n.*518T>C
ENST00000679200.1:c.*518T>C (LAMB1)	ENSP00000503498.1:n.*518T>C
ENST00000222399.10:c.4446T>C (LAMB1)	ENSP00000222399.6:p.Ile1482=
ENST00000393561.5:c.4518T>C (LAMB1)	ENSP00000377191.1:p.Ile1506=
ENST00000417551.5:c.*141A>G (DLD)	ENSP00000390667.1:n.*141A>G
ENST00000468518.1:n.505T>C (LAMB1)
ENST00000474380.1:n.683T>C (LAMB1)
NM_002291.2:c.4446T>C (LAMB1)	NP_002282.2:p.Ile1482=
XM_017012201.1:c.4518T>C (LAMB1)	XP_016867690.1:p.Ile1506=
XR_001744756.1:n.5365T>C (LAMB1)
NM_002291.3:c.4446T>C (LAMB1) MANE Select	NP_002282.2:p.Ile1482=