Canonical Allele Identifier: CA368857848

Gene: DLD

Linked Data

• dbSNP Id: rs1167598969
• gnomAD v2: 7-107557376-C-T
• gnomAD v3: 7-107916931-C-T
• gnomAD v4: 7-107916931-C-T
• MyVariant Identifiers: chr7:g.107557376C>T (hg19) ; chr7:g.107916931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916931C>T , CM000669.2:g.107916931C>T	GRCh38
NC_000007.13:g.107557376C>T , CM000669.1:g.107557376C>T	GRCh37
NC_000007.12:g.107344612C>T	NCBI36
NG_008045.1:g.30791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1013C>T MANE Select	ENSP00000205402.3:p.Pro338Leu
ENST00000205402.9:c.1013C>T	ENSP00000205402.3:p.Pro338Leu
ENST00000415325.5:c.*687C>T	ENSP00000402593.1:n.*687C>T
ENST00000417551.5:c.1013C>T	ENSP00000390667.1:p.Pro338Leu
ENST00000437604.6:c.869C>T	ENSP00000387542.2:p.Pro290Leu
ENST00000440410.5:c.944C>T	ENSP00000417016.1:p.Pro315Leu
NM_000108.4:c.1013C>T	NP_000099.2:p.Pro338Leu
NM_001289750.1:c.716C>T	NP_001276679.1:p.Pro239Leu
NM_001289751.1:c.944C>T	NP_001276680.1:p.Pro315Leu
NM_001289752.1:c.869C>T	NP_001276681.1:p.Pro290Leu
NM_000108.5:c.1013C>T MANE Select	NP_000099.2:p.Pro338Leu