Canonical Allele Identifier: CA400882763
Gene: COG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196507C>T , CM000679.2:g.73196507C>T GRCh38
NC_000017.10:g.71192646C>T , CM000679.1:g.71192646C>T GRCh37
NC_000017.9:g.68704241C>T NCBI36
NG_008971.1:g.8474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316C>T MANE Select ENSP00000299886.4:p.Pro106Ser
ENST00000299886.8:c.316C>T ENSP00000299886.4:p.Pro106Ser
ENST00000438720.7:c.314C>T
ENST00000582587.2:c.313C>T
ENST00000618996.4:c.316C>T ENSP00000479450.1:p.Pro106Ser
NM_018714.2:c.316C>T NP_061184.1:p.Pro106Ser
NM_018714.3:c.316C>T MANE Select NP_061184.1:p.Pro106Ser