Canonical Allele Identifier: CA457111224

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931387-A-G
• MyVariant Identifiers: chr7:g.107571832A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931387A>G , CM000669.2:g.107931387A>G	GRCh38
NC_000007.13:g.107571832A>G , CM000669.1:g.107571832A>G	GRCh37
NC_000007.12:g.107359068A>G	NCBI36
NG_023255.1:g.76973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4506T>C (LAMB1) MANE Select	ENSP00000222399.6:p.Asn1502=
ENST00000393561.6:c.4095T>C (LAMB1)	ENSP00000377191.2:p.Asn1365=
ENST00000468518.2:n.2740T>C (LAMB1)
ENST00000468999.2:n.2654T>C (LAMB1)
ENST00000474380.2:n.1321T>C (LAMB1)
ENST00000676574.1:c.*422T>C (LAMB1)	ENSP00000503081.1:n.*422T>C
ENST00000676744.1:n.352T>C (LAMB1)
ENST00000676777.1:c.4506T>C (LAMB1)	ENSP00000504756.1:p.Asn1502=
ENST00000677101.1:c.*4142T>C (LAMB1)	ENSP00000503156.1:n.*4142T>C
ENST00000677144.1:c.*1325T>C (LAMB1)	ENSP00000503049.1:n.*1325T>C
ENST00000677485.1:n.5730T>C (LAMB1)
ENST00000677588.1:c.*737T>C (LAMB1)	ENSP00000502938.1:n.*737T>C
ENST00000677793.1:c.4194T>C (LAMB1)	ENSP00000504020.1:p.Asn1398=
ENST00000677801.1:c.*335T>C (LAMB1)	ENSP00000503438.1:n.*335T>C
ENST00000677883.1:n.17T>C (LAMB1)
ENST00000678232.1:n.4695T>C (LAMB1)
ENST00000678310.1:n.2675T>C (LAMB1)
ENST00000678698.1:c.*578T>C (LAMB1)	ENSP00000503198.1:n.*578T>C
ENST00000678704.1:c.*3088T>C (LAMB1)	ENSP00000504589.1:n.*3088T>C
ENST00000678892.1:c.*578T>C (LAMB1)	ENSP00000504841.1:n.*578T>C
ENST00000679200.1:c.*578T>C (LAMB1)	ENSP00000503498.1:n.*578T>C
ENST00000222399.10:c.4506T>C (LAMB1)	ENSP00000222399.6:p.Asn1502=
ENST00000393561.5:c.4578T>C (LAMB1)	ENSP00000377191.1:p.Asn1526=
ENST00000417551.5:c.*125-44A>G (DLD)	ENSP00000390667.1:n.*125-44A>G
ENST00000468518.1:n.565T>C (LAMB1)
ENST00000474380.1:n.743T>C (LAMB1)
NM_002291.2:c.4506T>C (LAMB1)	NP_002282.2:p.Asn1502=
XM_017012201.1:c.4578T>C (LAMB1)	XP_016867690.1:p.Asn1526=
XR_001744756.1:n.5425T>C (LAMB1)
NM_002291.3:c.4506T>C (LAMB1) MANE Select	NP_002282.2:p.Asn1502=