Canonical Allele Identifier: CA368863946

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571849T>G (hg19) ; chr7:g.107931404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931404T>G , CM000669.2:g.107931404T>G	GRCh38
NC_000007.13:g.107571849T>G , CM000669.1:g.107571849T>G	GRCh37
NC_000007.12:g.107359085T>G	NCBI36
NG_023255.1:g.76956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4489A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Asn1497His
ENST00000393561.6:c.4078A>C (LAMB1)	ENSP00000377191.2:p.Asn1360His
ENST00000468518.2:n.2723A>C (LAMB1)
ENST00000468999.2:n.2637A>C (LAMB1)
ENST00000474380.2:n.1304A>C (LAMB1)
ENST00000676574.1:c.*405A>C (LAMB1)	ENSP00000503081.1:n.*405A>C
ENST00000676744.1:n.335A>C (LAMB1)
ENST00000676777.1:c.4489A>C (LAMB1)	ENSP00000504756.1:p.Asn1497His
ENST00000677101.1:c.*4125A>C (LAMB1)	ENSP00000503156.1:n.*4125A>C
ENST00000677144.1:c.*1308A>C (LAMB1)	ENSP00000503049.1:n.*1308A>C
ENST00000677485.1:n.5713A>C (LAMB1)
ENST00000677588.1:c.*720A>C (LAMB1)	ENSP00000502938.1:n.*720A>C
ENST00000677793.1:c.4177A>C (LAMB1)	ENSP00000504020.1:p.Asn1393His
ENST00000677801.1:c.*318A>C (LAMB1)	ENSP00000503438.1:n.*318A>C
ENST00000678232.1:n.4678A>C (LAMB1)
ENST00000678310.1:n.2658A>C (LAMB1)
ENST00000678698.1:c.*561A>C (LAMB1)	ENSP00000503198.1:n.*561A>C
ENST00000678704.1:c.*3071A>C (LAMB1)	ENSP00000504589.1:n.*3071A>C
ENST00000678892.1:c.*561A>C (LAMB1)	ENSP00000504841.1:n.*561A>C
ENST00000679200.1:c.*561A>C (LAMB1)	ENSP00000503498.1:n.*561A>C
ENST00000222399.10:c.4489A>C (LAMB1)	ENSP00000222399.6:p.Asn1497His
ENST00000393561.5:c.4561A>C (LAMB1)	ENSP00000377191.1:p.Asn1521His
ENST00000417551.5:c.*125-27T>G (DLD)	ENSP00000390667.1:n.*125-27T>G
ENST00000468518.1:n.548A>C (LAMB1)
ENST00000474380.1:n.726A>C (LAMB1)
NM_002291.2:c.4489A>C (LAMB1)	NP_002282.2:p.Asn1497His
XM_017012201.1:c.4561A>C (LAMB1)	XP_016867690.1:p.Asn1521His
XR_001744756.1:n.5408A>C (LAMB1)
NM_002291.3:c.4489A>C (LAMB1) MANE Select	NP_002282.2:p.Asn1497His