Canonical Allele Identifier: CA368864216

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs2032709227
• MyVariant Identifiers: chr7:g.107571912T>C (hg19) ; chr7:g.107931467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931467T>C , CM000669.2:g.107931467T>C	GRCh38
NC_000007.13:g.107571912T>C , CM000669.1:g.107571912T>C	GRCh37
NC_000007.12:g.107359148T>C	NCBI36
NG_023255.1:g.76893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4426A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1476Glu
ENST00000393561.6:c.4015A>G (LAMB1)	ENSP00000377191.2:p.Lys1339Glu
ENST00000468518.2:n.2660A>G (LAMB1)
ENST00000468999.2:n.2574A>G (LAMB1)
ENST00000474380.2:n.1241A>G (LAMB1)
ENST00000676574.1:c.*342A>G (LAMB1)	ENSP00000503081.1:n.*342A>G
ENST00000676744.1:n.272A>G (LAMB1)
ENST00000676777.1:c.4426A>G (LAMB1)	ENSP00000504756.1:p.Lys1476Glu
ENST00000677101.1:c.*4062A>G (LAMB1)	ENSP00000503156.1:n.*4062A>G
ENST00000677144.1:c.*1245A>G (LAMB1)	ENSP00000503049.1:n.*1245A>G
ENST00000677485.1:n.5650A>G (LAMB1)
ENST00000677588.1:c.*657A>G (LAMB1)	ENSP00000502938.1:n.*657A>G
ENST00000677793.1:c.4114A>G (LAMB1)	ENSP00000504020.1:p.Lys1372Glu
ENST00000677801.1:c.*255A>G (LAMB1)	ENSP00000503438.1:n.*255A>G
ENST00000678232.1:n.4615A>G (LAMB1)
ENST00000678310.1:n.2595A>G (LAMB1)
ENST00000678698.1:c.*498A>G (LAMB1)	ENSP00000503198.1:n.*498A>G
ENST00000678704.1:c.*3008A>G (LAMB1)	ENSP00000504589.1:n.*3008A>G
ENST00000678892.1:c.*498A>G (LAMB1)	ENSP00000504841.1:n.*498A>G
ENST00000679200.1:c.*498A>G (LAMB1)	ENSP00000503498.1:n.*498A>G
ENST00000222399.10:c.4426A>G (LAMB1)	ENSP00000222399.6:p.Lys1476Glu
ENST00000393561.5:c.4498A>G (LAMB1)	ENSP00000377191.1:p.Lys1500Glu
ENST00000417551.5:c.*161T>C (DLD)	ENSP00000390667.1:n.*161T>C
ENST00000468518.1:n.485A>G (LAMB1)
ENST00000474380.1:n.663A>G (LAMB1)
NM_002291.2:c.4426A>G (LAMB1)	NP_002282.2:p.Lys1476Glu
XM_017012201.1:c.4498A>G (LAMB1)	XP_016867690.1:p.Lys1500Glu
XR_001744756.1:n.5345A>G (LAMB1)
NM_002291.3:c.4426A>G (LAMB1) MANE Select	NP_002282.2:p.Lys1476Glu