Canonical Allele Identifier: CA368864281

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571930G>C (hg19) ; chr7:g.107931485G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931485G>C , CM000669.2:g.107931485G>C	GRCh38
NC_000007.13:g.107571930G>C , CM000669.1:g.107571930G>C	GRCh37
NC_000007.12:g.107359166G>C	NCBI36
NG_023255.1:g.76875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4408C>G (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1470Val
ENST00000393561.6:c.3997C>G (LAMB1)	ENSP00000377191.2:p.Leu1333Val
ENST00000468518.2:n.2642C>G (LAMB1)
ENST00000468999.2:n.2556C>G (LAMB1)
ENST00000474380.2:n.1223C>G (LAMB1)
ENST00000676574.1:c.*324C>G (LAMB1)	ENSP00000503081.1:n.*324C>G
ENST00000676744.1:n.254C>G (LAMB1)
ENST00000676777.1:c.4408C>G (LAMB1)	ENSP00000504756.1:p.Leu1470Val
ENST00000677101.1:c.*4044C>G (LAMB1)	ENSP00000503156.1:n.*4044C>G
ENST00000677144.1:c.*1227C>G (LAMB1)	ENSP00000503049.1:n.*1227C>G
ENST00000677485.1:n.5632C>G (LAMB1)
ENST00000677588.1:c.*639C>G (LAMB1)	ENSP00000502938.1:n.*639C>G
ENST00000677793.1:c.4096C>G (LAMB1)	ENSP00000504020.1:p.Leu1366Val
ENST00000677801.1:c.*237C>G (LAMB1)	ENSP00000503438.1:n.*237C>G
ENST00000678232.1:n.4597C>G (LAMB1)
ENST00000678310.1:n.2577C>G (LAMB1)
ENST00000678698.1:c.*480C>G (LAMB1)	ENSP00000503198.1:n.*480C>G
ENST00000678704.1:c.*2990C>G (LAMB1)	ENSP00000504589.1:n.*2990C>G
ENST00000678892.1:c.*480C>G (LAMB1)	ENSP00000504841.1:n.*480C>G
ENST00000679200.1:c.*480C>G (LAMB1)	ENSP00000503498.1:n.*480C>G
ENST00000222399.10:c.4408C>G (LAMB1)	ENSP00000222399.6:p.Leu1470Val
ENST00000393561.5:c.4480C>G (LAMB1)	ENSP00000377191.1:p.Leu1494Val
ENST00000417551.5:c.*179G>C (DLD)	ENSP00000390667.1:n.*179G>C
ENST00000468518.1:n.467C>G (LAMB1)
ENST00000474380.1:n.645C>G (LAMB1)
NM_002291.2:c.4408C>G (LAMB1)	NP_002282.2:p.Leu1470Val
XM_017012201.1:c.4480C>G (LAMB1)	XP_016867690.1:p.Leu1494Val
XR_001744756.1:n.5327C>G (LAMB1)
NM_002291.3:c.4408C>G (LAMB1) MANE Select	NP_002282.2:p.Leu1470Val