Canonical Allele Identifier: CA4435025

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs150279683
• ExAC: 7:107571875 G / A
• gnomAD v3: 7-107931430-G-A
• gnomAD v4: 7-107931430-G-A
• MyVariant Identifiers: chr7:g.107571875G>A (hg19) ; chr7:g.107931430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931430G>A , CM000669.2:g.107931430G>A	GRCh38
NC_000007.13:g.107571875G>A , CM000669.1:g.107571875G>A	GRCh37
NC_000007.12:g.107359111G>A	NCBI36
NG_023255.1:g.76930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4463C>T (LAMB1) MANE Select	ENSP00000222399.6:p.Ala1488Val
ENST00000393561.6:c.4052C>T (LAMB1)	ENSP00000377191.2:p.Ala1351Val
ENST00000468518.2:n.2697C>T (LAMB1)
ENST00000468999.2:n.2611C>T (LAMB1)
ENST00000474380.2:n.1278C>T (LAMB1)
ENST00000676574.1:c.*379C>T (LAMB1)	ENSP00000503081.1:n.*379C>T
ENST00000676744.1:n.309C>T (LAMB1)
ENST00000676777.1:c.4463C>T (LAMB1)	ENSP00000504756.1:p.Ala1488Val
ENST00000677101.1:c.*4099C>T (LAMB1)	ENSP00000503156.1:n.*4099C>T
ENST00000677144.1:c.*1282C>T (LAMB1)	ENSP00000503049.1:n.*1282C>T
ENST00000677485.1:n.5687C>T (LAMB1)
ENST00000677588.1:c.*694C>T (LAMB1)	ENSP00000502938.1:n.*694C>T
ENST00000677793.1:c.4151C>T (LAMB1)	ENSP00000504020.1:p.Ala1384Val
ENST00000677801.1:c.*292C>T (LAMB1)	ENSP00000503438.1:n.*292C>T
ENST00000678232.1:n.4652C>T (LAMB1)
ENST00000678310.1:n.2632C>T (LAMB1)
ENST00000678698.1:c.*535C>T (LAMB1)	ENSP00000503198.1:n.*535C>T
ENST00000678704.1:c.*3045C>T (LAMB1)	ENSP00000504589.1:n.*3045C>T
ENST00000678892.1:c.*535C>T (LAMB1)	ENSP00000504841.1:n.*535C>T
ENST00000679200.1:c.*535C>T (LAMB1)	ENSP00000503498.1:n.*535C>T
ENST00000222399.10:c.4463C>T (LAMB1)	ENSP00000222399.6:p.Ala1488Val
ENST00000393561.5:c.4535C>T (LAMB1)	ENSP00000377191.1:p.Ala1512Val
ENST00000417551.5:c.*125-1G>A (DLD)	ENSP00000390667.1:n.*125-1G>A
ENST00000468518.1:n.522C>T (LAMB1)
ENST00000474380.1:n.700C>T (LAMB1)
NM_002291.2:c.4463C>T (LAMB1)	NP_002282.2:p.Ala1488Val
XM_017012201.1:c.4535C>T (LAMB1)	XP_016867690.1:p.Ala1512Val
XR_001744756.1:n.5382C>T (LAMB1)
NM_002291.3:c.4463C>T (LAMB1) MANE Select	NP_002282.2:p.Ala1488Val