Canonical Allele Identifier: CA300657953

Gene: DCC

Linked Data

• dbSNP Id: rs750172123
• MyVariant Identifiers: chr18:g.50432575T>G (hg19) ; chr18:g.52906205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906205T>G , CM000680.2:g.52906205T>G	GRCh38
NC_000018.9:g.50432575T>G , CM000680.1:g.50432575T>G	GRCh37
NC_000018.8:g.48686573T>G	NCBI36
NG_013341.1:g.571034T>G
NG_013341.2:g.571034T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.574T>G MANE Select	ENSP00000389140.2:p.Leu192Val
ENST00000304775.12:c.375T>G
ENST00000412726.5:c.505T>G	ENSP00000397322.2:p.Leu169Val
ENST00000442544.6:c.574T>G	ENSP00000389140.2:p.Leu192Val
ENST00000579349.1:c.495T>G
ENST00000580024.1:n.487T>G
ENST00000581559.1:c.495T>G	ENSP00000463463.1:n.495T>G
NM_005215.3:c.574T>G	NP_005206.2:p.Leu192Val
XM_011525843.1:c.574T>G	XP_011524145.1:p.Leu192Val
XM_011525845.1:c.574T>G	XP_011524147.1:p.Leu192Val
XM_011525846.1:c.574T>G	XP_011524148.1:p.Leu192Val
XM_017025568.1:c.574T>G	XP_016881057.1:p.Leu192Val
XM_017025569.1:c.574T>G	XP_016881058.1:p.Leu192Val
NM_005215.4:c.574T>G MANE Select	NP_005206.2:p.Leu192Val