Canonical Allele Identifier: CA4434607

Gene: DLD

Linked Data

• ClinVar Variation Id: 2152905
• ClinVar RCV Id: RCV003085392
• dbSNP Id: rs17624
• ExAC: 7:107557354 C / G
• gnomAD v2: 7-107557354-C-G
• gnomAD v3: 7-107916909-C-G
• gnomAD v4: 7-107916909-C-G
• MyVariant Identifiers: chr7:g.107557354C>G (hg19) ; chr7:g.107916909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916909C>G , CM000669.2:g.107916909C>G	GRCh38
NC_000007.13:g.107557354C>G , CM000669.1:g.107557354C>G	GRCh37
NC_000007.12:g.107344590C>G	NCBI36
NG_008045.1:g.30769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.991C>G MANE Select	ENSP00000205402.3:p.Leu331Val
ENST00000205402.9:c.991C>G	ENSP00000205402.3:p.Leu331Val
ENST00000415325.5:c.*665C>G	ENSP00000402593.1:n.*665C>G
ENST00000417551.5:c.991C>G	ENSP00000390667.1:p.Leu331Val
ENST00000437604.6:c.847C>G	ENSP00000387542.2:p.Leu283Val
ENST00000440410.5:c.922C>G	ENSP00000417016.1:p.Leu308Val
NM_000108.4:c.991C>G	NP_000099.2:p.Leu331Val
NM_001289750.1:c.694C>G	NP_001276679.1:p.Leu232Val
NM_001289751.1:c.922C>G	NP_001276680.1:p.Leu308Val
NM_001289752.1:c.847C>G	NP_001276681.1:p.Leu283Val
NM_000108.5:c.991C>G MANE Select	NP_000099.2:p.Leu331Val