Canonical Allele Identifier: CA368857411

Gene: DLD

Linked Data

• ClinVar Variation Id: 1442844
• ClinVar RCV Id: RCV001960369
• dbSNP Id: rs2116264648
• gnomAD v4: 7-107915687-T-C
• MyVariant Identifiers: chr7:g.107556132T>C (hg19) ; chr7:g.107915687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915687T>C , CM000669.2:g.107915687T>C	GRCh38
NC_000007.13:g.107556132T>C , CM000669.1:g.107556132T>C	GRCh37
NC_000007.12:g.107343368T>C	NCBI36
NG_008045.1:g.29547T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.866T>C MANE Select	ENSP00000205402.3:p.Ile289Thr
ENST00000205402.9:c.866T>C	ENSP00000205402.3:p.Ile289Thr
ENST00000415325.5:c.*540T>C	ENSP00000402593.1:n.*540T>C
ENST00000417551.5:c.866T>C	ENSP00000390667.1:p.Ile289Thr
ENST00000437604.6:c.722T>C	ENSP00000387542.2:p.Ile241Thr
ENST00000440410.5:c.797T>C	ENSP00000417016.1:p.Ile266Thr
NM_000108.4:c.866T>C	NP_000099.2:p.Ile289Thr
NM_001289750.1:c.569T>C	NP_001276679.1:p.Ile190Thr
NM_001289751.1:c.797T>C	NP_001276680.1:p.Ile266Thr
NM_001289752.1:c.722T>C	NP_001276681.1:p.Ile241Thr
NM_000108.5:c.866T>C MANE Select	NP_000099.2:p.Ile289Thr