Canonical Allele Identifier: CA164265860

Gene: LAMB1 DLD

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107926641T>C , CM000669.2:g.107926641T>C	GRCh38
NC_000007.13:g.107567086T>C , CM000669.1:g.107567086T>C	GRCh37
NC_000007.12:g.107354322T>C	NCBI36
NG_023255.1:g.81719A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4888-282A>G (LAMB1) MANE Select	NP_002282.2:n.4888-282A>G
ENST00000222399.11:c.4888-282A>G (LAMB1) MANE Select	ENSP00000222399.6:n.4888-282A>G
NM_002291.2:c.4888-282A>G (LAMB1)	NP_002282.2:n.4888-282A>G
ENST00000222399.10:c.4888-282A>G (LAMB1)	ENSP00000222399.6:n.4888-282A>G
ENST00000393561.5:c.4960-282A>G (LAMB1)	ENSP00000377191.1:n.4960-282A>G
ENST00000393561.6:c.4477-282A>G (LAMB1)	ENSP00000377191.2:n.4477-282A>G
ENST00000417551.5:c.*125-4790T>C (DLD)	ENSP00000390667.1:n.*125-4790T>C
ENST00000468518.2:n.3122-282A>G (LAMB1)
ENST00000468999.2:n.3036-282A>G (LAMB1)
ENST00000472714.1:n.915-282A>G (LAMB1)
ENST00000472714.2:n.359-282A>G (LAMB1)
ENST00000474380.2:n.1703-282A>G (LAMB1)
ENST00000676574.1:c.*804-282A>G (LAMB1)	ENSP00000503081.1:n.*804-282A>G
ENST00000676744.1:n.734-282A>G (LAMB1)
ENST00000677101.1:c.*4524-282A>G (LAMB1)	ENSP00000503156.1:n.*4524-282A>G
ENST00000677144.1:c.*1707-282A>G (LAMB1)	ENSP00000503049.1:n.*1707-282A>G
ENST00000677485.1:n.6112-282A>G (LAMB1)
ENST00000677588.1:c.*1119-282A>G (LAMB1)	ENSP00000502938.1:n.*1119-282A>G
ENST00000677793.1:c.4576-282A>G (LAMB1)	ENSP00000504020.1:n.4576-282A>G
ENST00000677801.1:c.*717-282A>G (LAMB1)	ENSP00000503438.1:n.*717-282A>G
ENST00000677957.1:n.2005A>G (LAMB1)
ENST00000678310.1:n.3057-282A>G (LAMB1)
ENST00000678698.1:c.*960-282A>G (LAMB1)	ENSP00000503198.1:n.*960-282A>G
ENST00000678704.1:c.*3470-282A>G (LAMB1)	ENSP00000504589.1:n.*3470-282A>G
ENST00000678892.1:c.*960-282A>G (LAMB1)	ENSP00000504841.1:n.*960-282A>G
ENST00000678984.1:n.1709A>G (LAMB1)
ENST00000679200.1:c.*960-282A>G (LAMB1)	ENSP00000503498.1:n.*960-282A>G
XM_017012201.1:c.4960-282A>G (LAMB1)	XP_016867690.1:n.4960-282A>G
XR_001744756.1:n.5807-282A>G (LAMB1)