Canonical Allele Identifier: CA502026284
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192774G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196635G>T , CM000679.2:g.73196635G>T GRCh38
NC_000017.10:g.71192774G>T , CM000679.1:g.71192774G>T GRCh37
NC_000017.9:g.68704369G>T NCBI36
NG_008971.1:g.8602G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.444G>T MANE Select ENSP00000299886.4:p.Leu148=
ENST00000299886.8:c.444G>T ENSP00000299886.4:p.Leu148=
ENST00000438720.7:c.442G>T
ENST00000582587.2:c.441G>T
ENST00000618996.4:c.444G>T ENSP00000479450.1:p.Leu148=
NM_018714.2:c.444G>T NP_061184.1:p.Leu148=
NM_018714.3:c.444G>T MANE Select NP_061184.1:p.Leu148=
Search 100 bp 5'
Search 100 bp 3'