Canonical Allele Identifier: CA2274431938
Gene: COG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196535A= , CM000679.2:g.73196535A= GRCh38
NC_000017.10:g.71192674A= , CM000679.1:g.71192674A= GRCh37
NC_000017.9:g.68704269A= NCBI36
NG_008971.1:g.8502A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.344A= MANE Select ENSP00000299886.4:p.Tyr115=
ENST00000299886.8:c.344A= ENSP00000299886.4:p.Tyr115=
ENST00000438720.7:c.342A=
ENST00000582587.2:c.341A=
ENST00000618996.4:c.344A= ENSP00000479450.1:p.Tyr115=
NM_018714.2:c.344A= NP_061184.1:p.Tyr115=
NM_018714.3:c.344A= MANE Select NP_061184.1:p.Tyr115=
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