Canonical Allele Identifier: CA368864029

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931422-C-T
• MyVariant Identifiers: chr7:g.107571867C>T (hg19) ; chr7:g.107931422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931422C>T , CM000669.2:g.107931422C>T	GRCh38
NC_000007.13:g.107571867C>T , CM000669.1:g.107571867C>T	GRCh37
NC_000007.12:g.107359103C>T	NCBI36
NG_023255.1:g.76938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4471G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1491Lys
ENST00000393561.6:c.4060G>A (LAMB1)	ENSP00000377191.2:p.Glu1354Lys
ENST00000468518.2:n.2705G>A (LAMB1)
ENST00000468999.2:n.2619G>A (LAMB1)
ENST00000474380.2:n.1286G>A (LAMB1)
ENST00000676574.1:c.*387G>A (LAMB1)	ENSP00000503081.1:n.*387G>A
ENST00000676744.1:n.317G>A (LAMB1)
ENST00000676777.1:c.4471G>A (LAMB1)	ENSP00000504756.1:p.Glu1491Lys
ENST00000677101.1:c.*4107G>A (LAMB1)	ENSP00000503156.1:n.*4107G>A
ENST00000677144.1:c.*1290G>A (LAMB1)	ENSP00000503049.1:n.*1290G>A
ENST00000677485.1:n.5695G>A (LAMB1)
ENST00000677588.1:c.*702G>A (LAMB1)	ENSP00000502938.1:n.*702G>A
ENST00000677793.1:c.4159G>A (LAMB1)	ENSP00000504020.1:p.Glu1387Lys
ENST00000677801.1:c.*300G>A (LAMB1)	ENSP00000503438.1:n.*300G>A
ENST00000678232.1:n.4660G>A (LAMB1)
ENST00000678310.1:n.2640G>A (LAMB1)
ENST00000678698.1:c.*543G>A (LAMB1)	ENSP00000503198.1:n.*543G>A
ENST00000678704.1:c.*3053G>A (LAMB1)	ENSP00000504589.1:n.*3053G>A
ENST00000678892.1:c.*543G>A (LAMB1)	ENSP00000504841.1:n.*543G>A
ENST00000679200.1:c.*543G>A (LAMB1)	ENSP00000503498.1:n.*543G>A
ENST00000222399.10:c.4471G>A (LAMB1)	ENSP00000222399.6:p.Glu1491Lys
ENST00000393561.5:c.4543G>A (LAMB1)	ENSP00000377191.1:p.Glu1515Lys
ENST00000417551.5:c.*125-9C>T (DLD)	ENSP00000390667.1:n.*125-9C>T
ENST00000468518.1:n.530G>A (LAMB1)
ENST00000474380.1:n.708G>A (LAMB1)
NM_002291.2:c.4471G>A (LAMB1)	NP_002282.2:p.Glu1491Lys
XM_017012201.1:c.4543G>A (LAMB1)	XP_016867690.1:p.Glu1515Lys
XR_001744756.1:n.5390G>A (LAMB1)
NM_002291.3:c.4471G>A (LAMB1) MANE Select	NP_002282.2:p.Glu1491Lys