Canonical Allele Identifier: CA457111228

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs2032706827
• MyVariant Identifiers: chr7:g.107571838C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931393C>G , CM000669.2:g.107931393C>G	GRCh38
NC_000007.13:g.107571838C>G , CM000669.1:g.107571838C>G	GRCh37
NC_000007.12:g.107359074C>G	NCBI36
NG_023255.1:g.76967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4500G>C (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1500=
ENST00000393561.6:c.4089G>C (LAMB1)	ENSP00000377191.2:p.Leu1363=
ENST00000468518.2:n.2734G>C (LAMB1)
ENST00000468999.2:n.2648G>C (LAMB1)
ENST00000474380.2:n.1315G>C (LAMB1)
ENST00000676574.1:c.*416G>C (LAMB1)	ENSP00000503081.1:n.*416G>C
ENST00000676744.1:n.346G>C (LAMB1)
ENST00000676777.1:c.4500G>C (LAMB1)	ENSP00000504756.1:p.Leu1500=
ENST00000677101.1:c.*4136G>C (LAMB1)	ENSP00000503156.1:n.*4136G>C
ENST00000677144.1:c.*1319G>C (LAMB1)	ENSP00000503049.1:n.*1319G>C
ENST00000677485.1:n.5724G>C (LAMB1)
ENST00000677588.1:c.*731G>C (LAMB1)	ENSP00000502938.1:n.*731G>C
ENST00000677793.1:c.4188G>C (LAMB1)	ENSP00000504020.1:p.Leu1396=
ENST00000677801.1:c.*329G>C (LAMB1)	ENSP00000503438.1:n.*329G>C
ENST00000677883.1:n.11G>C (LAMB1)
ENST00000678232.1:n.4689G>C (LAMB1)
ENST00000678310.1:n.2669G>C (LAMB1)
ENST00000678698.1:c.*572G>C (LAMB1)	ENSP00000503198.1:n.*572G>C
ENST00000678704.1:c.*3082G>C (LAMB1)	ENSP00000504589.1:n.*3082G>C
ENST00000678892.1:c.*572G>C (LAMB1)	ENSP00000504841.1:n.*572G>C
ENST00000679200.1:c.*572G>C (LAMB1)	ENSP00000503498.1:n.*572G>C
ENST00000222399.10:c.4500G>C (LAMB1)	ENSP00000222399.6:p.Leu1500=
ENST00000393561.5:c.4572G>C (LAMB1)	ENSP00000377191.1:p.Leu1524=
ENST00000417551.5:c.*125-38C>G (DLD)	ENSP00000390667.1:n.*125-38C>G
ENST00000468518.1:n.559G>C (LAMB1)
ENST00000474380.1:n.737G>C (LAMB1)
NM_002291.2:c.4500G>C (LAMB1)	NP_002282.2:p.Leu1500=
XM_017012201.1:c.4572G>C (LAMB1)	XP_016867690.1:p.Leu1524=
XR_001744756.1:n.5419G>C (LAMB1)
NM_002291.3:c.4500G>C (LAMB1) MANE Select	NP_002282.2:p.Leu1500=