Canonical Allele Identifier: CA402471689

Gene: DCC

Linked Data

• dbSNP Id: rs1320742427
• gnomAD v2: 18-50912473-C-T
• MyVariant Identifiers: chr18:g.50912473C>T (hg19) ; chr18:g.53386103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53386103C>T , CM000680.2:g.53386103C>T	GRCh38
NC_000018.9:g.50912473C>T , CM000680.1:g.50912473C>T	GRCh37
NC_000018.8:g.49166471C>T	NCBI36
NG_013341.1:g.1050932C>T
NG_013341.2:g.1050932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442544.7:c.2420C>T MANE Select	ENSP00000389140.2:p.Pro807Leu
ENST00000304775.12:c.2221C>T
ENST00000412726.5:c.2351C>T	ENSP00000397322.2:p.Pro784Leu
ENST00000442544.6:c.2420C>T	ENSP00000389140.2:p.Pro807Leu
ENST00000581580.5:c.1385C>T	ENSP00000464582.1:p.Pro462Leu
NM_005215.3:c.2420C>T	NP_005206.2:p.Pro807Leu
XM_011525843.1:c.2420C>T	XP_011524145.1:p.Pro807Leu
XM_011525844.1:c.1385C>T	XP_011524146.1:p.Pro462Leu
XM_011525845.1:c.2420C>T	XP_011524147.1:p.Pro807Leu
XM_011525846.1:c.2420C>T	XP_011524148.1:p.Pro807Leu
XM_011525844.2:c.1385C>T	XP_011524146.1:p.Pro462Leu
XM_017025568.1:c.2420C>T	XP_016881057.1:p.Pro807Leu
XM_017025569.1:c.2420C>T	XP_016881058.1:p.Pro807Leu
XM_017025570.1:c.1385C>T	XP_016881059.1:p.Pro462Leu
NM_005215.4:c.2420C>T MANE Select	NP_005206.2:p.Pro807Leu