Canonical Allele Identifier: CA502026212

Gene: COG1

Linked Data

• MyVariant Identifiers: chr17:g.71192687C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196548C>G , CM000679.2:g.73196548C>G	GRCh38
NC_000017.10:g.71192687C>G , CM000679.1:g.71192687C>G	GRCh37
NC_000017.9:g.68704282C>G	NCBI36
NG_008971.1:g.8515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.357C>G MANE Select	ENSP00000299886.4:p.Ala119=
ENST00000299886.8:c.357C>G	ENSP00000299886.4:p.Ala119=
ENST00000438720.7:c.355C>G
ENST00000582587.2:c.354C>G
ENST00000618996.4:c.357C>G	ENSP00000479450.1:p.Ala119=
NM_018714.2:c.357C>G	NP_061184.1:p.Ala119=
NM_018714.3:c.357C>G MANE Select	NP_061184.1:p.Ala119=