Canonical Allele Identifier: CA368864267

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571926C>A (hg19) ; chr7:g.107931481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931481C>A , CM000669.2:g.107931481C>A	GRCh38
NC_000007.13:g.107571926C>A , CM000669.1:g.107571926C>A	GRCh37
NC_000007.12:g.107359162C>A	NCBI36
NG_023255.1:g.76879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4412G>T (LAMB1) MANE Select	ENSP00000222399.6:p.Arg1471Met
ENST00000393561.6:c.4001G>T (LAMB1)	ENSP00000377191.2:p.Arg1334Met
ENST00000468518.2:n.2646G>T (LAMB1)
ENST00000468999.2:n.2560G>T (LAMB1)
ENST00000474380.2:n.1227G>T (LAMB1)
ENST00000676574.1:c.*328G>T (LAMB1)	ENSP00000503081.1:n.*328G>T
ENST00000676744.1:n.258G>T (LAMB1)
ENST00000676777.1:c.4412G>T (LAMB1)	ENSP00000504756.1:p.Arg1471Met
ENST00000677101.1:c.*4048G>T (LAMB1)	ENSP00000503156.1:n.*4048G>T
ENST00000677144.1:c.*1231G>T (LAMB1)	ENSP00000503049.1:n.*1231G>T
ENST00000677485.1:n.5636G>T (LAMB1)
ENST00000677588.1:c.*643G>T (LAMB1)	ENSP00000502938.1:n.*643G>T
ENST00000677793.1:c.4100G>T (LAMB1)	ENSP00000504020.1:p.Arg1367Met
ENST00000677801.1:c.*241G>T (LAMB1)	ENSP00000503438.1:n.*241G>T
ENST00000678232.1:n.4601G>T (LAMB1)
ENST00000678310.1:n.2581G>T (LAMB1)
ENST00000678698.1:c.*484G>T (LAMB1)	ENSP00000503198.1:n.*484G>T
ENST00000678704.1:c.*2994G>T (LAMB1)	ENSP00000504589.1:n.*2994G>T
ENST00000678892.1:c.*484G>T (LAMB1)	ENSP00000504841.1:n.*484G>T
ENST00000679200.1:c.*484G>T (LAMB1)	ENSP00000503498.1:n.*484G>T
ENST00000222399.10:c.4412G>T (LAMB1)	ENSP00000222399.6:p.Arg1471Met
ENST00000393561.5:c.4484G>T (LAMB1)	ENSP00000377191.1:p.Arg1495Met
ENST00000417551.5:c.*175C>A (DLD)	ENSP00000390667.1:n.*175C>A
ENST00000468518.1:n.471G>T (LAMB1)
ENST00000474380.1:n.649G>T (LAMB1)
NM_002291.2:c.4412G>T (LAMB1)	NP_002282.2:p.Arg1471Met
XM_017012201.1:c.4484G>T (LAMB1)	XP_016867690.1:p.Arg1495Met
XR_001744756.1:n.5331G>T (LAMB1)
NM_002291.3:c.4412G>T (LAMB1) MANE Select	NP_002282.2:p.Arg1471Met