Canonical Allele Identifier: CA4435020

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 3021097
• ClinVar RCV Id: RCV003872240
• dbSNP Id: rs754091696
• ExAC: 7:107571859 C / T
• gnomAD v2: 7-107571859-C-T
• gnomAD v4: 7-107931414-C-T
• MyVariant Identifiers: chr7:g.107571859C>T (hg19) ; chr7:g.107931414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931414C>T , CM000669.2:g.107931414C>T	GRCh38
NC_000007.13:g.107571859C>T , CM000669.1:g.107571859C>T	GRCh37
NC_000007.12:g.107359095C>T	NCBI36
NG_023255.1:g.76946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4479G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Met1493Ile
ENST00000393561.6:c.4068G>A (LAMB1)	ENSP00000377191.2:p.Met1356Ile
ENST00000468518.2:n.2713G>A (LAMB1)
ENST00000468999.2:n.2627G>A (LAMB1)
ENST00000474380.2:n.1294G>A (LAMB1)
ENST00000676574.1:c.*395G>A (LAMB1)	ENSP00000503081.1:n.*395G>A
ENST00000676744.1:n.325G>A (LAMB1)
ENST00000676777.1:c.4479G>A (LAMB1)	ENSP00000504756.1:p.Met1493Ile
ENST00000677101.1:c.*4115G>A (LAMB1)	ENSP00000503156.1:n.*4115G>A
ENST00000677144.1:c.*1298G>A (LAMB1)	ENSP00000503049.1:n.*1298G>A
ENST00000677485.1:n.5703G>A (LAMB1)
ENST00000677588.1:c.*710G>A (LAMB1)	ENSP00000502938.1:n.*710G>A
ENST00000677793.1:c.4167G>A (LAMB1)	ENSP00000504020.1:p.Met1389Ile
ENST00000677801.1:c.*308G>A (LAMB1)	ENSP00000503438.1:n.*308G>A
ENST00000678232.1:n.4668G>A (LAMB1)
ENST00000678310.1:n.2648G>A (LAMB1)
ENST00000678698.1:c.*551G>A (LAMB1)	ENSP00000503198.1:n.*551G>A
ENST00000678704.1:c.*3061G>A (LAMB1)	ENSP00000504589.1:n.*3061G>A
ENST00000678892.1:c.*551G>A (LAMB1)	ENSP00000504841.1:n.*551G>A
ENST00000679200.1:c.*551G>A (LAMB1)	ENSP00000503498.1:n.*551G>A
ENST00000222399.10:c.4479G>A (LAMB1)	ENSP00000222399.6:p.Met1493Ile
ENST00000393561.5:c.4551G>A (LAMB1)	ENSP00000377191.1:p.Met1517Ile
ENST00000417551.5:c.*125-17C>T (DLD)	ENSP00000390667.1:n.*125-17C>T
ENST00000468518.1:n.538G>A (LAMB1)
ENST00000474380.1:n.716G>A (LAMB1)
NM_002291.2:c.4479G>A (LAMB1)	NP_002282.2:p.Met1493Ile
XM_017012201.1:c.4551G>A (LAMB1)	XP_016867690.1:p.Met1517Ile
XR_001744756.1:n.5398G>A (LAMB1)
NM_002291.3:c.4479G>A (LAMB1) MANE Select	NP_002282.2:p.Met1493Ile