Canonical Allele Identifier: CA6958340

Gene: COG6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39677550C>T , CM000675.2:g.39677550C>T	GRCh38
NC_000013.10:g.40251687C>T , CM000675.1:g.40251687C>T	GRCh37
NC_000013.9:g.39149687C>T	NCBI36
NG_028352.1:g.26924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.511C>T MANE Select	ENSP00000397441.2:p.Arg171Ter
ENST00000356576.8:c.*348C>T	ENSP00000348983.4:n.*348C>T
ENST00000416691.5:c.511C>T	ENSP00000403733.1:p.Arg171Ter
ENST00000422759.6:n.576C>T
ENST00000455146.7:c.511C>T	ENSP00000397441.2:p.Arg171Ter
ENST00000536488.5:c.326C>T
ENST00000543804.5:c.*272C>T	ENSP00000440473.1:n.*272C>T
NM_001145079.1:c.511C>T	NP_001138551.1:p.Arg171Ter
NM_020751.2:c.511C>T	NP_065802.1:p.Arg171Ter
NR_026745.1:n.676C>T
XM_011535168.1:c.511C>T	XP_011533470.1:p.Arg171Ter
XM_011535169.1:c.355C>T	XP_011533471.1:p.Arg119Ter
XM_011535170.1:c.355C>T	XP_011533472.1:p.Arg119Ter
NM_020751.3:c.511C>T MANE Select	NP_065802.1:p.Arg171Ter
NM_001145079.2:c.511C>T	NP_001138551.1:p.Arg171Ter