Canonical Allele Identifier: CA368863934

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931401-C-T
• MyVariant Identifiers: chr7:g.107571846C>T (hg19) ; chr7:g.107931401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931401C>T , CM000669.2:g.107931401C>T	GRCh38
NC_000007.13:g.107571846C>T , CM000669.1:g.107571846C>T	GRCh37
NC_000007.12:g.107359082C>T	NCBI36
NG_023255.1:g.76959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4492G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1498Lys
ENST00000393561.6:c.4081G>A (LAMB1)	ENSP00000377191.2:p.Glu1361Lys
ENST00000468518.2:n.2726G>A (LAMB1)
ENST00000468999.2:n.2640G>A (LAMB1)
ENST00000474380.2:n.1307G>A (LAMB1)
ENST00000676574.1:c.*408G>A (LAMB1)	ENSP00000503081.1:n.*408G>A
ENST00000676744.1:n.338G>A (LAMB1)
ENST00000676777.1:c.4492G>A (LAMB1)	ENSP00000504756.1:p.Glu1498Lys
ENST00000677101.1:c.*4128G>A (LAMB1)	ENSP00000503156.1:n.*4128G>A
ENST00000677144.1:c.*1311G>A (LAMB1)	ENSP00000503049.1:n.*1311G>A
ENST00000677485.1:n.5716G>A (LAMB1)
ENST00000677588.1:c.*723G>A (LAMB1)	ENSP00000502938.1:n.*723G>A
ENST00000677793.1:c.4180G>A (LAMB1)	ENSP00000504020.1:p.Glu1394Lys
ENST00000677801.1:c.*321G>A (LAMB1)	ENSP00000503438.1:n.*321G>A
ENST00000677883.1:n.3G>A (LAMB1)
ENST00000678232.1:n.4681G>A (LAMB1)
ENST00000678310.1:n.2661G>A (LAMB1)
ENST00000678698.1:c.*564G>A (LAMB1)	ENSP00000503198.1:n.*564G>A
ENST00000678704.1:c.*3074G>A (LAMB1)	ENSP00000504589.1:n.*3074G>A
ENST00000678892.1:c.*564G>A (LAMB1)	ENSP00000504841.1:n.*564G>A
ENST00000679200.1:c.*564G>A (LAMB1)	ENSP00000503498.1:n.*564G>A
ENST00000222399.10:c.4492G>A (LAMB1)	ENSP00000222399.6:p.Glu1498Lys
ENST00000393561.5:c.4564G>A (LAMB1)	ENSP00000377191.1:p.Glu1522Lys
ENST00000417551.5:c.*125-30C>T (DLD)	ENSP00000390667.1:n.*125-30C>T
ENST00000468518.1:n.551G>A (LAMB1)
ENST00000474380.1:n.729G>A (LAMB1)
NM_002291.2:c.4492G>A (LAMB1)	NP_002282.2:p.Glu1498Lys
XM_017012201.1:c.4564G>A (LAMB1)	XP_016867690.1:p.Glu1522Lys
XR_001744756.1:n.5411G>A (LAMB1)
NM_002291.3:c.4492G>A (LAMB1) MANE Select	NP_002282.2:p.Glu1498Lys