Canonical Allele Identifier: CA402513822

Gene: DCC

Linked Data

• ClinVar Variation Id: 2615298
• ClinVar RCV Id: RCV003365257
• MyVariant Identifiers: chr18:g.50432582C>T (hg19) ; chr18:g.52906212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906212C>T , CM000680.2:g.52906212C>T	GRCh38
NC_000018.9:g.50432582C>T , CM000680.1:g.50432582C>T	GRCh37
NC_000018.8:g.48686580C>T	NCBI36
NG_013341.1:g.571041C>T
NG_013341.2:g.571041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.581C>T MANE Select	ENSP00000389140.2:p.Ser194Phe
ENST00000304775.12:c.382C>T
ENST00000412726.5:c.512C>T	ENSP00000397322.2:p.Ser171Phe
ENST00000442544.6:c.581C>T	ENSP00000389140.2:p.Ser194Phe
ENST00000579349.1:c.502C>T
ENST00000580024.1:n.494C>T
ENST00000581559.1:c.502C>T	ENSP00000463463.1:n.502C>T
NM_005215.3:c.581C>T	NP_005206.2:p.Ser194Phe
XM_011525843.1:c.581C>T	XP_011524145.1:p.Ser194Phe
XM_011525845.1:c.581C>T	XP_011524147.1:p.Ser194Phe
XM_011525846.1:c.581C>T	XP_011524148.1:p.Ser194Phe
XM_017025568.1:c.581C>T	XP_016881057.1:p.Ser194Phe
XM_017025569.1:c.581C>T	XP_016881058.1:p.Ser194Phe
NM_005215.4:c.581C>T MANE Select	NP_005206.2:p.Ser194Phe