Canonical Allele Identifier: CA400883371
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192772C>G (hg19) chr17:g.73196633C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196633C>G , CM000679.2:g.73196633C>G GRCh38
NC_000017.10:g.71192772C>G , CM000679.1:g.71192772C>G GRCh37
NC_000017.9:g.68704367C>G NCBI36
NG_008971.1:g.8600C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.442C>G MANE Select ENSP00000299886.4:p.Leu148Val
ENST00000299886.8:c.442C>G ENSP00000299886.4:p.Leu148Val
ENST00000438720.7:c.440C>G
ENST00000582587.2:c.439C>G
ENST00000618996.4:c.442C>G ENSP00000479450.1:p.Leu148Val
NM_018714.2:c.442C>G NP_061184.1:p.Leu148Val
NM_018714.3:c.442C>G MANE Select NP_061184.1:p.Leu148Val
Search 100 bp 5'
Search 100 bp 3'