Canonical Allele Identifier: CA400883373
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192773T>A (hg19) chr17:g.73196634T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196634T>A , CM000679.2:g.73196634T>A GRCh38
NC_000017.10:g.71192773T>A , CM000679.1:g.71192773T>A GRCh37
NC_000017.9:g.68704368T>A NCBI36
NG_008971.1:g.8601T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.443T>A MANE Select ENSP00000299886.4:p.Leu148Gln
ENST00000299886.8:c.443T>A ENSP00000299886.4:p.Leu148Gln
ENST00000438720.7:c.441T>A
ENST00000582587.2:c.440T>A
ENST00000618996.4:c.443T>A ENSP00000479450.1:p.Leu148Gln
NM_018714.2:c.443T>A NP_061184.1:p.Leu148Gln
NM_018714.3:c.443T>A MANE Select NP_061184.1:p.Leu148Gln
Search 100 bp 5'
Search 100 bp 3'