Canonical Allele Identifier: CA368864250

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931476-C-A
• MyVariant Identifiers: chr7:g.107571921C>A (hg19) ; chr7:g.107931476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931476C>A , CM000669.2:g.107931476C>A	GRCh38
NC_000007.13:g.107571921C>A , CM000669.1:g.107571921C>A	GRCh37
NC_000007.12:g.107359157C>A	NCBI36
NG_023255.1:g.76884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4417G>T (LAMB1) MANE Select	ENSP00000222399.6:p.Asp1473Tyr
ENST00000393561.6:c.4006G>T (LAMB1)	ENSP00000377191.2:p.Asp1336Tyr
ENST00000468518.2:n.2651G>T (LAMB1)
ENST00000468999.2:n.2565G>T (LAMB1)
ENST00000474380.2:n.1232G>T (LAMB1)
ENST00000676574.1:c.*333G>T (LAMB1)	ENSP00000503081.1:n.*333G>T
ENST00000676744.1:n.263G>T (LAMB1)
ENST00000676777.1:c.4417G>T (LAMB1)	ENSP00000504756.1:p.Asp1473Tyr
ENST00000677101.1:c.*4053G>T (LAMB1)	ENSP00000503156.1:n.*4053G>T
ENST00000677144.1:c.*1236G>T (LAMB1)	ENSP00000503049.1:n.*1236G>T
ENST00000677485.1:n.5641G>T (LAMB1)
ENST00000677588.1:c.*648G>T (LAMB1)	ENSP00000502938.1:n.*648G>T
ENST00000677793.1:c.4105G>T (LAMB1)	ENSP00000504020.1:p.Asp1369Tyr
ENST00000677801.1:c.*246G>T (LAMB1)	ENSP00000503438.1:n.*246G>T
ENST00000678232.1:n.4606G>T (LAMB1)
ENST00000678310.1:n.2586G>T (LAMB1)
ENST00000678698.1:c.*489G>T (LAMB1)	ENSP00000503198.1:n.*489G>T
ENST00000678704.1:c.*2999G>T (LAMB1)	ENSP00000504589.1:n.*2999G>T
ENST00000678892.1:c.*489G>T (LAMB1)	ENSP00000504841.1:n.*489G>T
ENST00000679200.1:c.*489G>T (LAMB1)	ENSP00000503498.1:n.*489G>T
ENST00000222399.10:c.4417G>T (LAMB1)	ENSP00000222399.6:p.Asp1473Tyr
ENST00000393561.5:c.4489G>T (LAMB1)	ENSP00000377191.1:p.Asp1497Tyr
ENST00000417551.5:c.*170C>A (DLD)	ENSP00000390667.1:n.*170C>A
ENST00000468518.1:n.476G>T (LAMB1)
ENST00000474380.1:n.654G>T (LAMB1)
NM_002291.2:c.4417G>T (LAMB1)	NP_002282.2:p.Asp1473Tyr
XM_017012201.1:c.4489G>T (LAMB1)	XP_016867690.1:p.Asp1497Tyr
XR_001744756.1:n.5336G>T (LAMB1)
NM_002291.3:c.4417G>T (LAMB1) MANE Select	NP_002282.2:p.Asp1473Tyr