Canonical Allele Identifier: CA457111259

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs2116325547
• MyVariant Identifiers: chr7:g.107571907T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931462T>C , CM000669.2:g.107931462T>C	GRCh38
NC_000007.13:g.107571907T>C , CM000669.1:g.107571907T>C	GRCh37
NC_000007.12:g.107359143T>C	NCBI36
NG_023255.1:g.76898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4431A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Gln1477=
ENST00000393561.6:c.4020A>G (LAMB1)	ENSP00000377191.2:p.Gln1340=
ENST00000468518.2:n.2665A>G (LAMB1)
ENST00000468999.2:n.2579A>G (LAMB1)
ENST00000474380.2:n.1246A>G (LAMB1)
ENST00000676574.1:c.*347A>G (LAMB1)	ENSP00000503081.1:n.*347A>G
ENST00000676744.1:n.277A>G (LAMB1)
ENST00000676777.1:c.4431A>G (LAMB1)	ENSP00000504756.1:p.Gln1477=
ENST00000677101.1:c.*4067A>G (LAMB1)	ENSP00000503156.1:n.*4067A>G
ENST00000677144.1:c.*1250A>G (LAMB1)	ENSP00000503049.1:n.*1250A>G
ENST00000677485.1:n.5655A>G (LAMB1)
ENST00000677588.1:c.*662A>G (LAMB1)	ENSP00000502938.1:n.*662A>G
ENST00000677793.1:c.4119A>G (LAMB1)	ENSP00000504020.1:p.Gln1373=
ENST00000677801.1:c.*260A>G (LAMB1)	ENSP00000503438.1:n.*260A>G
ENST00000678232.1:n.4620A>G (LAMB1)
ENST00000678310.1:n.2600A>G (LAMB1)
ENST00000678698.1:c.*503A>G (LAMB1)	ENSP00000503198.1:n.*503A>G
ENST00000678704.1:c.*3013A>G (LAMB1)	ENSP00000504589.1:n.*3013A>G
ENST00000678892.1:c.*503A>G (LAMB1)	ENSP00000504841.1:n.*503A>G
ENST00000679200.1:c.*503A>G (LAMB1)	ENSP00000503498.1:n.*503A>G
ENST00000222399.10:c.4431A>G (LAMB1)	ENSP00000222399.6:p.Gln1477=
ENST00000393561.5:c.4503A>G (LAMB1)	ENSP00000377191.1:p.Gln1501=
ENST00000417551.5:c.*156T>C (DLD)	ENSP00000390667.1:n.*156T>C
ENST00000468518.1:n.490A>G (LAMB1)
ENST00000474380.1:n.668A>G (LAMB1)
NM_002291.2:c.4431A>G (LAMB1)	NP_002282.2:p.Gln1477=
XM_017012201.1:c.4503A>G (LAMB1)	XP_016867690.1:p.Gln1501=
XR_001744756.1:n.5350A>G (LAMB1)
NM_002291.3:c.4431A>G (LAMB1) MANE Select	NP_002282.2:p.Gln1477=