Canonical Allele Identifier: CA502026139
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1474653900
gnomAD v2: 17-71192777-C-T
MyVariant Identifiers: chr17:g.71192777C>T (hg19) chr17:g.73196638C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196638C>T , CM000679.2:g.73196638C>T GRCh38
NC_000017.10:g.71192777C>T , CM000679.1:g.71192777C>T GRCh37
NC_000017.9:g.68704372C>T NCBI36
NG_008971.1:g.8605C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.447C>T MANE Select ENSP00000299886.4:p.Leu149=
ENST00000299886.8:c.447C>T ENSP00000299886.4:p.Leu149=
ENST00000438720.7:c.445C>T
ENST00000582587.2:c.444C>T
ENST00000618996.4:c.447C>T ENSP00000479450.1:p.Leu149=
NM_018714.2:c.447C>T NP_061184.1:p.Leu149=
NM_018714.3:c.447C>T MANE Select NP_061184.1:p.Leu149=
Search 100 bp 5'
Search 100 bp 3'