Canonical Allele Identifier: CA402513754

Gene: DCC

Linked Data

• MyVariant Identifiers: chr18:g.50432548A>C (hg19) ; chr18:g.52906178A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906178A>C , CM000680.2:g.52906178A>C	GRCh38
NC_000018.9:g.50432548A>C , CM000680.1:g.50432548A>C	GRCh37
NC_000018.8:g.48686546A>C	NCBI36
NG_013341.1:g.571007A>C
NG_013341.2:g.571007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.547A>C MANE Select	ENSP00000389140.2:p.Ile183Leu
ENST00000304775.12:c.348A>C
ENST00000412726.5:c.478A>C	ENSP00000397322.2:p.Ile160Leu
ENST00000442544.6:c.547A>C	ENSP00000389140.2:p.Ile183Leu
ENST00000579349.1:c.468A>C
ENST00000580024.1:n.460A>C
ENST00000581559.1:c.468A>C	ENSP00000463463.1:n.468A>C
NM_005215.3:c.547A>C	NP_005206.2:p.Ile183Leu
XM_011525843.1:c.547A>C	XP_011524145.1:p.Ile183Leu
XM_011525845.1:c.547A>C	XP_011524147.1:p.Ile183Leu
XM_011525846.1:c.547A>C	XP_011524148.1:p.Ile183Leu
XM_017025568.1:c.547A>C	XP_016881057.1:p.Ile183Leu
XM_017025569.1:c.547A>C	XP_016881058.1:p.Ile183Leu
NM_005215.4:c.547A>C MANE Select	NP_005206.2:p.Ile183Leu