Canonical Allele Identifier: CA368863992

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571860A>C (hg19) ; chr7:g.107931415A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931415A>C , CM000669.2:g.107931415A>C	GRCh38
NC_000007.13:g.107571860A>C , CM000669.1:g.107571860A>C	GRCh37
NC_000007.12:g.107359096A>C	NCBI36
NG_023255.1:g.76945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4478T>G (LAMB1) MANE Select	ENSP00000222399.6:p.Met1493Arg
ENST00000393561.6:c.4067T>G (LAMB1)	ENSP00000377191.2:p.Met1356Arg
ENST00000468518.2:n.2712T>G (LAMB1)
ENST00000468999.2:n.2626T>G (LAMB1)
ENST00000474380.2:n.1293T>G (LAMB1)
ENST00000676574.1:c.*394T>G (LAMB1)	ENSP00000503081.1:n.*394T>G
ENST00000676744.1:n.324T>G (LAMB1)
ENST00000676777.1:c.4478T>G (LAMB1)	ENSP00000504756.1:p.Met1493Arg
ENST00000677101.1:c.*4114T>G (LAMB1)	ENSP00000503156.1:n.*4114T>G
ENST00000677144.1:c.*1297T>G (LAMB1)	ENSP00000503049.1:n.*1297T>G
ENST00000677485.1:n.5702T>G (LAMB1)
ENST00000677588.1:c.*709T>G (LAMB1)	ENSP00000502938.1:n.*709T>G
ENST00000677793.1:c.4166T>G (LAMB1)	ENSP00000504020.1:p.Met1389Arg
ENST00000677801.1:c.*307T>G (LAMB1)	ENSP00000503438.1:n.*307T>G
ENST00000678232.1:n.4667T>G (LAMB1)
ENST00000678310.1:n.2647T>G (LAMB1)
ENST00000678698.1:c.*550T>G (LAMB1)	ENSP00000503198.1:n.*550T>G
ENST00000678704.1:c.*3060T>G (LAMB1)	ENSP00000504589.1:n.*3060T>G
ENST00000678892.1:c.*550T>G (LAMB1)	ENSP00000504841.1:n.*550T>G
ENST00000679200.1:c.*550T>G (LAMB1)	ENSP00000503498.1:n.*550T>G
ENST00000222399.10:c.4478T>G (LAMB1)	ENSP00000222399.6:p.Met1493Arg
ENST00000393561.5:c.4550T>G (LAMB1)	ENSP00000377191.1:p.Met1517Arg
ENST00000417551.5:c.*125-16A>C (DLD)	ENSP00000390667.1:n.*125-16A>C
ENST00000468518.1:n.537T>G (LAMB1)
ENST00000474380.1:n.715T>G (LAMB1)
NM_002291.2:c.4478T>G (LAMB1)	NP_002282.2:p.Met1493Arg
XM_017012201.1:c.4550T>G (LAMB1)	XP_016867690.1:p.Met1517Arg
XR_001744756.1:n.5397T>G (LAMB1)
NM_002291.3:c.4478T>G (LAMB1) MANE Select	NP_002282.2:p.Met1493Arg