Canonical Allele Identifier: CA402513582

Gene: DCC

Linked Data

• gnomAD v4: 18-52906100-G-C
• MyVariant Identifiers: chr18:g.50432470G>C (hg19) ; chr18:g.52906100G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906100G>C , CM000680.2:g.52906100G>C	GRCh38
NC_000018.9:g.50432470G>C , CM000680.1:g.50432470G>C	GRCh37
NC_000018.8:g.48686468G>C	NCBI36
NG_013341.1:g.570929G>C
NG_013341.2:g.570929G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000442544.7:c.469G>C MANE Select	ENSP00000389140.2:p.Val157Leu
ENST00000304775.12:c.270G>C
ENST00000412726.5:c.400G>C	ENSP00000397322.2:p.Val134Leu
ENST00000442544.6:c.469G>C	ENSP00000389140.2:p.Val157Leu
ENST00000579349.1:c.390G>C
ENST00000580024.1:n.382G>C
ENST00000581559.1:c.390G>C	ENSP00000463463.1:n.390G>C
NM_005215.3:c.469G>C	NP_005206.2:p.Val157Leu
XM_011525843.1:c.469G>C	XP_011524145.1:p.Val157Leu
XM_011525845.1:c.469G>C	XP_011524147.1:p.Val157Leu
XM_011525846.1:c.469G>C	XP_011524148.1:p.Val157Leu
XM_017025568.1:c.469G>C	XP_016881057.1:p.Val157Leu
XM_017025569.1:c.469G>C	XP_016881058.1:p.Val157Leu
NM_005215.4:c.469G>C MANE Select	NP_005206.2:p.Val157Leu