Canonical Allele Identifier: CA483450400

Gene: COG6

Linked Data

• ClinVar Variation Id: 511001
• ClinVar RCV Id: RCV000600014
• dbSNP Id: rs1555273437
• MyVariant Identifiers: chr13:g.40233605C>T (hg19) ; chr13:g.39659468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39659468C>T , CM000675.2:g.39659468C>T	GRCh38
NC_000013.10:g.40233605C>T , CM000675.1:g.40233605C>T	GRCh37
NC_000013.9:g.39131605C>T	NCBI36
NG_028352.1:g.8842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.258C>T MANE Select	ENSP00000397441.2:p.Ile86=
ENST00000356576.8:c.*95C>T	ENSP00000348983.4:n.*95C>T
ENST00000416691.5:c.258C>T	ENSP00000403733.1:p.Ile86=
ENST00000422759.6:n.323C>T
ENST00000455146.7:c.258C>T	ENSP00000397441.2:p.Ile86=
ENST00000536488.5:c.73C>T
ENST00000542266.5:c.*231C>T	ENSP00000441297.1:n.*231C>T
ENST00000543804.5:c.*19C>T	ENSP00000440473.1:n.*19C>T
NM_001145079.1:c.258C>T	NP_001138551.1:p.Ile86=
NM_020751.2:c.258C>T	NP_065802.1:p.Ile86=
NR_026745.1:n.423C>T
XM_011535168.1:c.258C>T	XP_011533470.1:p.Ile86=
XM_011535169.1:c.102C>T	XP_011533471.1:p.Ile34=
XM_011535170.1:c.102C>T	XP_011533472.1:p.Ile34=
NM_020751.3:c.258C>T MANE Select	NP_065802.1:p.Ile86=
NM_001145079.2:c.258C>T	NP_001138551.1:p.Ile86=