Canonical Allele Identifier: CA400882936
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192691A>C (hg19) chr17:g.73196552A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196552A>C , CM000679.2:g.73196552A>C GRCh38
NC_000017.10:g.71192691A>C , CM000679.1:g.71192691A>C GRCh37
NC_000017.9:g.68704286A>C NCBI36
NG_008971.1:g.8519A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.361A>C MANE Select ENSP00000299886.4:p.Ile121Leu
ENST00000299886.8:c.361A>C ENSP00000299886.4:p.Ile121Leu
ENST00000438720.7:c.359A>C
ENST00000582587.2:c.358A>C
ENST00000618996.4:c.361A>C ENSP00000479450.1:p.Ile121Leu
NM_018714.2:c.361A>C NP_061184.1:p.Ile121Leu
NM_018714.3:c.361A>C MANE Select NP_061184.1:p.Ile121Leu
Search 100 bp 5'
Search 100 bp 3'