Canonical Allele Identifier: CA368864259

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571924C>G (hg19) ; chr7:g.107931479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931479C>G , CM000669.2:g.107931479C>G	GRCh38
NC_000007.13:g.107571924C>G , CM000669.1:g.107571924C>G	GRCh37
NC_000007.12:g.107359160C>G	NCBI36
NG_023255.1:g.76881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4414G>C (LAMB1) MANE Select	ENSP00000222399.6:p.Ala1472Pro
ENST00000393561.6:c.4003G>C (LAMB1)	ENSP00000377191.2:p.Ala1335Pro
ENST00000468518.2:n.2648G>C (LAMB1)
ENST00000468999.2:n.2562G>C (LAMB1)
ENST00000474380.2:n.1229G>C (LAMB1)
ENST00000676574.1:c.*330G>C (LAMB1)	ENSP00000503081.1:n.*330G>C
ENST00000676744.1:n.260G>C (LAMB1)
ENST00000676777.1:c.4414G>C (LAMB1)	ENSP00000504756.1:p.Ala1472Pro
ENST00000677101.1:c.*4050G>C (LAMB1)	ENSP00000503156.1:n.*4050G>C
ENST00000677144.1:c.*1233G>C (LAMB1)	ENSP00000503049.1:n.*1233G>C
ENST00000677485.1:n.5638G>C (LAMB1)
ENST00000677588.1:c.*645G>C (LAMB1)	ENSP00000502938.1:n.*645G>C
ENST00000677793.1:c.4102G>C (LAMB1)	ENSP00000504020.1:p.Ala1368Pro
ENST00000677801.1:c.*243G>C (LAMB1)	ENSP00000503438.1:n.*243G>C
ENST00000678232.1:n.4603G>C (LAMB1)
ENST00000678310.1:n.2583G>C (LAMB1)
ENST00000678698.1:c.*486G>C (LAMB1)	ENSP00000503198.1:n.*486G>C
ENST00000678704.1:c.*2996G>C (LAMB1)	ENSP00000504589.1:n.*2996G>C
ENST00000678892.1:c.*486G>C (LAMB1)	ENSP00000504841.1:n.*486G>C
ENST00000679200.1:c.*486G>C (LAMB1)	ENSP00000503498.1:n.*486G>C
ENST00000222399.10:c.4414G>C (LAMB1)	ENSP00000222399.6:p.Ala1472Pro
ENST00000393561.5:c.4486G>C (LAMB1)	ENSP00000377191.1:p.Ala1496Pro
ENST00000417551.5:c.*173C>G (DLD)	ENSP00000390667.1:n.*173C>G
ENST00000468518.1:n.473G>C (LAMB1)
ENST00000474380.1:n.651G>C (LAMB1)
NM_002291.2:c.4414G>C (LAMB1)	NP_002282.2:p.Ala1472Pro
XM_017012201.1:c.4486G>C (LAMB1)	XP_016867690.1:p.Ala1496Pro
XR_001744756.1:n.5333G>C (LAMB1)
NM_002291.3:c.4414G>C (LAMB1) MANE Select	NP_002282.2:p.Ala1472Pro