Canonical Allele Identifier: CA16044032

Gene: DCC

Linked Data

• ClinVar Variation Id: 375284
• ClinVar RCV Id: RCV000416340
• dbSNP Id: rs1057519056
• MyVariant Identifiers: chr18:g.50734116G>C (hg19) ; chr18:g.53207746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53207746G>C , CM000680.2:g.53207746G>C	GRCh38
NC_000018.9:g.50734116G>C , CM000680.1:g.50734116G>C	GRCh37
NC_000018.8:g.48988114G>C	NCBI36
NG_013341.1:g.872575G>C
NG_013341.2:g.872575G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000442544.7:c.1790G>C MANE Select	ENSP00000389140.2:p.Arg597Pro
ENST00000304775.12:c.1591G>C
ENST00000412726.5:c.1721G>C	ENSP00000397322.2:p.Arg574Pro
ENST00000442544.6:c.1790G>C	ENSP00000389140.2:p.Arg597Pro
ENST00000581580.5:c.755G>C	ENSP00000464582.1:p.Arg252Pro
NM_005215.3:c.1790G>C	NP_005206.2:p.Arg597Pro
XM_011525843.1:c.1790G>C	XP_011524145.1:p.Arg597Pro
XM_011525844.1:c.755G>C	XP_011524146.1:p.Arg252Pro
XM_011525845.1:c.1790G>C	XP_011524147.1:p.Arg597Pro
XM_011525846.1:c.1790G>C	XP_011524148.1:p.Arg597Pro
XM_011525844.2:c.755G>C	XP_011524146.1:p.Arg252Pro
XM_017025568.1:c.1790G>C	XP_016881057.1:p.Arg597Pro
XM_017025569.1:c.1790G>C	XP_016881058.1:p.Arg597Pro
XM_017025570.1:c.755G>C	XP_016881059.1:p.Arg252Pro
NM_005215.4:c.1790G>C MANE Select	NP_005206.2:p.Arg597Pro