Canonical Allele Identifier: CA2326525519
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786000C= , CM000681.2:g.18786000C= GRCh38
NC_000019.9:g.18896810C= , CM000681.1:g.18896810C= GRCh37
NC_000019.8:g.18757810C= NCBI36
NG_007070.1:g.10305G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1454G= MANE Select ENSP00000222271.2:p.Arg485=
ENST00000222271.6:c.1454G= ENSP00000222271.2:p.Arg485=
ENST00000425807.1:c.1295G= ENSP00000403792.1:p.Arg432=
ENST00000542601.6:c.1355G= ENSP00000439156.2:p.Arg452=
NM_000095.2:c.1454G= NP_000086.2:p.Arg485=
NM_000095.3:c.1454G= MANE Select NP_000086.2:p.Arg485=