Canonical Allele Identifier: CA368864239

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571918C>G (hg19) ; chr7:g.107931473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931473C>G , CM000669.2:g.107931473C>G	GRCh38
NC_000007.13:g.107571918C>G , CM000669.1:g.107571918C>G	GRCh37
NC_000007.12:g.107359154C>G	NCBI36
NG_023255.1:g.76887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4420G>C (LAMB1) MANE Select	ENSP00000222399.6:p.Glu1474Gln
ENST00000393561.6:c.4009G>C (LAMB1)	ENSP00000377191.2:p.Glu1337Gln
ENST00000468518.2:n.2654G>C (LAMB1)
ENST00000468999.2:n.2568G>C (LAMB1)
ENST00000474380.2:n.1235G>C (LAMB1)
ENST00000676574.1:c.*336G>C (LAMB1)	ENSP00000503081.1:n.*336G>C
ENST00000676744.1:n.266G>C (LAMB1)
ENST00000676777.1:c.4420G>C (LAMB1)	ENSP00000504756.1:p.Glu1474Gln
ENST00000677101.1:c.*4056G>C (LAMB1)	ENSP00000503156.1:n.*4056G>C
ENST00000677144.1:c.*1239G>C (LAMB1)	ENSP00000503049.1:n.*1239G>C
ENST00000677485.1:n.5644G>C (LAMB1)
ENST00000677588.1:c.*651G>C (LAMB1)	ENSP00000502938.1:n.*651G>C
ENST00000677793.1:c.4108G>C (LAMB1)	ENSP00000504020.1:p.Glu1370Gln
ENST00000677801.1:c.*249G>C (LAMB1)	ENSP00000503438.1:n.*249G>C
ENST00000678232.1:n.4609G>C (LAMB1)
ENST00000678310.1:n.2589G>C (LAMB1)
ENST00000678698.1:c.*492G>C (LAMB1)	ENSP00000503198.1:n.*492G>C
ENST00000678704.1:c.*3002G>C (LAMB1)	ENSP00000504589.1:n.*3002G>C
ENST00000678892.1:c.*492G>C (LAMB1)	ENSP00000504841.1:n.*492G>C
ENST00000679200.1:c.*492G>C (LAMB1)	ENSP00000503498.1:n.*492G>C
ENST00000222399.10:c.4420G>C (LAMB1)	ENSP00000222399.6:p.Glu1474Gln
ENST00000393561.5:c.4492G>C (LAMB1)	ENSP00000377191.1:p.Glu1498Gln
ENST00000417551.5:c.*167C>G (DLD)	ENSP00000390667.1:n.*167C>G
ENST00000468518.1:n.479G>C (LAMB1)
ENST00000474380.1:n.657G>C (LAMB1)
NM_002291.2:c.4420G>C (LAMB1)	NP_002282.2:p.Glu1474Gln
XM_017012201.1:c.4492G>C (LAMB1)	XP_016867690.1:p.Glu1498Gln
XR_001744756.1:n.5339G>C (LAMB1)
NM_002291.3:c.4420G>C (LAMB1) MANE Select	NP_002282.2:p.Glu1474Gln