Canonical Allele Identifier: CA402518122

Gene: DCC

Linked Data

• dbSNP Id: rs2144558744
• gnomAD v4: 18-53207712-G-C
• MyVariant Identifiers: chr18:g.50734082G>C (hg19) ; chr18:g.53207712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53207712G>C , CM000680.2:g.53207712G>C	GRCh38
NC_000018.9:g.50734082G>C , CM000680.1:g.50734082G>C	GRCh37
NC_000018.8:g.48988080G>C	NCBI36
NG_013341.1:g.872541G>C
NG_013341.2:g.872541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.1756G>C MANE Select	ENSP00000389140.2:p.Glu586Gln
ENST00000304775.12:c.1557G>C
ENST00000412726.5:c.1687G>C	ENSP00000397322.2:p.Glu563Gln
ENST00000442544.6:c.1756G>C	ENSP00000389140.2:p.Glu586Gln
ENST00000581580.5:c.721G>C	ENSP00000464582.1:p.Glu241Gln
NM_005215.3:c.1756G>C	NP_005206.2:p.Glu586Gln
XM_011525843.1:c.1756G>C	XP_011524145.1:p.Glu586Gln
XM_011525844.1:c.721G>C	XP_011524146.1:p.Glu241Gln
XM_011525845.1:c.1756G>C	XP_011524147.1:p.Glu586Gln
XM_011525846.1:c.1756G>C	XP_011524148.1:p.Glu586Gln
XM_011525844.2:c.721G>C	XP_011524146.1:p.Glu241Gln
XM_017025568.1:c.1756G>C	XP_016881057.1:p.Glu586Gln
XM_017025569.1:c.1756G>C	XP_016881058.1:p.Glu586Gln
XM_017025570.1:c.721G>C	XP_016881059.1:p.Glu241Gln
NM_005215.4:c.1756G>C MANE Select	NP_005206.2:p.Glu586Gln