Canonical Allele Identifier: CA4435043

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 2972366
• ClinVar RCV Id: RCV003835492
• dbSNP Id: rs200616878
• ExAC: 7:107571962 A / G
• gnomAD v2: 7-107571962-A-G
• gnomAD v3: 7-107931517-A-G
• gnomAD v4: 7-107931517-A-G
• MyVariant Identifiers: chr7:g.107571962A>G (hg19) ; chr7:g.107931517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931517A>G , CM000669.2:g.107931517A>G	GRCh38
NC_000007.13:g.107571962A>G , CM000669.1:g.107571962A>G	GRCh37
NC_000007.12:g.107359198A>G	NCBI36
NG_023255.1:g.76843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4393-17T>C (LAMB1) MANE Select	ENSP00000222399.6:n.4393-17T>C
ENST00000393561.6:c.3982-17T>C (LAMB1)	ENSP00000377191.2:n.3982-17T>C
ENST00000468518.2:n.2627-17T>C (LAMB1)
ENST00000468999.2:n.2541-17T>C (LAMB1)
ENST00000474380.2:n.1208-17T>C (LAMB1)
ENST00000676574.1:c.*309-17T>C (LAMB1)	ENSP00000503081.1:n.*309-17T>C
ENST00000676744.1:n.222T>C (LAMB1)
ENST00000676777.1:c.4393-17T>C (LAMB1)	ENSP00000504756.1:n.4393-17T>C
ENST00000677101.1:c.*4029-17T>C (LAMB1)	ENSP00000503156.1:n.*4029-17T>C
ENST00000677144.1:c.*1212-17T>C (LAMB1)	ENSP00000503049.1:n.*1212-17T>C
ENST00000677485.1:n.5617-17T>C (LAMB1)
ENST00000677588.1:c.*624-17T>C (LAMB1)	ENSP00000502938.1:n.*624-17T>C
ENST00000677793.1:c.4081-17T>C (LAMB1)	ENSP00000504020.1:n.4081-17T>C
ENST00000677801.1:c.*222-17T>C (LAMB1)	ENSP00000503438.1:n.*222-17T>C
ENST00000678232.1:n.4582-17T>C (LAMB1)
ENST00000678310.1:n.2562-17T>C (LAMB1)
ENST00000678698.1:c.*465-17T>C (LAMB1)	ENSP00000503198.1:n.*465-17T>C
ENST00000678704.1:c.*2975-17T>C (LAMB1)	ENSP00000504589.1:n.*2975-17T>C
ENST00000678892.1:c.*465-17T>C (LAMB1)	ENSP00000504841.1:n.*465-17T>C
ENST00000679200.1:c.*465-17T>C (LAMB1)	ENSP00000503498.1:n.*465-17T>C
ENST00000222399.10:c.4393-17T>C (LAMB1)	ENSP00000222399.6:n.4393-17T>C
ENST00000393561.5:c.4465-17T>C (LAMB1)	ENSP00000377191.1:n.4465-17T>C
ENST00000417551.5:c.*211A>G (DLD)	ENSP00000390667.1:n.*211A>G
ENST00000468518.1:n.452-17T>C (LAMB1)
ENST00000474380.1:n.630-17T>C (LAMB1)
NM_002291.2:c.4393-17T>C (LAMB1)	NP_002282.2:n.4393-17T>C
XM_017012201.1:c.4465-17T>C (LAMB1)	XP_016867690.1:n.4465-17T>C
XR_001744756.1:n.5312-17T>C (LAMB1)
NM_002291.3:c.4393-17T>C (LAMB1) MANE Select	NP_002282.2:n.4393-17T>C