Canonical Allele Identifier: CA400881071
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193386-T-C
MyVariant Identifiers: chr17:g.71189525T>C (hg19) chr17:g.73193386T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193386T>C , CM000679.2:g.73193386T>C GRCh38
NC_000017.10:g.71189525T>C , CM000679.1:g.71189525T>C GRCh37
NC_000017.9:g.68701120T>C NCBI36
NG_008971.1:g.5353T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.315+2T>C MANE Select ENSP00000299886.4:n.315+2T>C
ENST00000299886.8:c.315+2T>C ENSP00000299886.4:n.315+2T>C
ENST00000438720.7:c.313+2T>C
ENST00000582587.2:c.292+2T>C
ENST00000618996.4:c.315+2T>C ENSP00000479450.1:n.315+2T>C
NM_018714.2:c.315+2T>C NP_061184.1:n.315+2T>C
NM_018714.3:c.315+2T>C MANE Select NP_061184.1:n.315+2T>C
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