Canonical Allele Identifier: CA368864290

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571932T>C (hg19) ; chr7:g.107931487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931487T>C , CM000669.2:g.107931487T>C	GRCh38
NC_000007.13:g.107571932T>C , CM000669.1:g.107571932T>C	GRCh37
NC_000007.12:g.107359168T>C	NCBI36
NG_023255.1:g.76873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4406A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1469Arg
ENST00000393561.6:c.3995A>G (LAMB1)	ENSP00000377191.2:p.Lys1332Arg
ENST00000468518.2:n.2640A>G (LAMB1)
ENST00000468999.2:n.2554A>G (LAMB1)
ENST00000474380.2:n.1221A>G (LAMB1)
ENST00000676574.1:c.*322A>G (LAMB1)	ENSP00000503081.1:n.*322A>G
ENST00000676744.1:n.252A>G (LAMB1)
ENST00000676777.1:c.4406A>G (LAMB1)	ENSP00000504756.1:p.Lys1469Arg
ENST00000677101.1:c.*4042A>G (LAMB1)	ENSP00000503156.1:n.*4042A>G
ENST00000677144.1:c.*1225A>G (LAMB1)	ENSP00000503049.1:n.*1225A>G
ENST00000677485.1:n.5630A>G (LAMB1)
ENST00000677588.1:c.*637A>G (LAMB1)	ENSP00000502938.1:n.*637A>G
ENST00000677793.1:c.4094A>G (LAMB1)	ENSP00000504020.1:p.Lys1365Arg
ENST00000677801.1:c.*235A>G (LAMB1)	ENSP00000503438.1:n.*235A>G
ENST00000678232.1:n.4595A>G (LAMB1)
ENST00000678310.1:n.2575A>G (LAMB1)
ENST00000678698.1:c.*478A>G (LAMB1)	ENSP00000503198.1:n.*478A>G
ENST00000678704.1:c.*2988A>G (LAMB1)	ENSP00000504589.1:n.*2988A>G
ENST00000678892.1:c.*478A>G (LAMB1)	ENSP00000504841.1:n.*478A>G
ENST00000679200.1:c.*478A>G (LAMB1)	ENSP00000503498.1:n.*478A>G
ENST00000222399.10:c.4406A>G (LAMB1)	ENSP00000222399.6:p.Lys1469Arg
ENST00000393561.5:c.4478A>G (LAMB1)	ENSP00000377191.1:p.Lys1493Arg
ENST00000417551.5:c.*181T>C (DLD)	ENSP00000390667.1:n.*181T>C
ENST00000468518.1:n.465A>G (LAMB1)
ENST00000474380.1:n.643A>G (LAMB1)
NM_002291.2:c.4406A>G (LAMB1)	NP_002282.2:p.Lys1469Arg
XM_017012201.1:c.4478A>G (LAMB1)	XP_016867690.1:p.Lys1493Arg
XR_001744756.1:n.5325A>G (LAMB1)
NM_002291.3:c.4406A>G (LAMB1) MANE Select	NP_002282.2:p.Lys1469Arg