Canonical Allele Identifier: CA368857692

Gene: DLD

Linked Data

• ClinVar Variation Id: 1966956
• ClinVar RCV Id: RCV002721682
• gnomAD v4: 7-107916884-G-C
• MyVariant Identifiers: chr7:g.107557329G>C (hg19) ; chr7:g.107916884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916884G>C , CM000669.2:g.107916884G>C	GRCh38
NC_000007.13:g.107557329G>C , CM000669.1:g.107557329G>C	GRCh37
NC_000007.12:g.107344565G>C	NCBI36
NG_008045.1:g.30744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.966G>C MANE Select	ENSP00000205402.3:p.Leu322Phe
ENST00000205402.9:c.966G>C	ENSP00000205402.3:p.Leu322Phe
ENST00000415325.5:c.*640G>C	ENSP00000402593.1:n.*640G>C
ENST00000417551.5:c.966G>C	ENSP00000390667.1:p.Leu322Phe
ENST00000437604.6:c.822G>C	ENSP00000387542.2:p.Leu274Phe
ENST00000440410.5:c.897G>C	ENSP00000417016.1:p.Leu299Phe
NM_000108.4:c.966G>C	NP_000099.2:p.Leu322Phe
NM_001289750.1:c.669G>C	NP_001276679.1:p.Leu223Phe
NM_001289751.1:c.897G>C	NP_001276680.1:p.Leu299Phe
NM_001289752.1:c.822G>C	NP_001276681.1:p.Leu274Phe
NM_000108.5:c.966G>C MANE Select	NP_000099.2:p.Leu322Phe