Canonical Allele Identifier: CA502026222
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192696G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196557G>A , CM000679.2:g.73196557G>A GRCh38
NC_000017.10:g.71192696G>A , CM000679.1:g.71192696G>A GRCh37
NC_000017.9:g.68704291G>A NCBI36
NG_008971.1:g.8524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.366G>A MANE Select ENSP00000299886.4:p.Lys122=
ENST00000299886.8:c.366G>A ENSP00000299886.4:p.Lys122=
ENST00000438720.7:c.364G>A
ENST00000582587.2:c.363G>A
ENST00000618996.4:c.366G>A ENSP00000479450.1:p.Lys122=
NM_018714.2:c.366G>A NP_061184.1:p.Lys122=
NM_018714.3:c.366G>A MANE Select NP_061184.1:p.Lys122=
Search 100 bp 5'
Search 100 bp 3'