Canonical Allele Identifier: CA120168
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9190
ClinVar RCV Id: RCV000009768
dbSNP Id: rs28936668

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786096T>C , CM000681.2:g.18786096T>C GRCh38
NC_000019.9:g.18896906T>C , CM000681.1:g.18896906T>C GRCh37
NC_000019.8:g.18757906T>C NCBI36
NG_007070.1:g.10209A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1358A>G MANE Select ENSP00000222271.2:p.Asn453Ser
ENST00000222271.6:c.1358A>G ENSP00000222271.2:p.Asn453Ser
ENST00000425807.1:c.1199A>G ENSP00000403792.1:p.Asn400Ser
ENST00000542601.6:c.1259A>G ENSP00000439156.2:p.Asn420Ser
NM_000095.2:c.1358A>G NP_000086.2:p.Asn453Ser
NM_000095.3:c.1358A>G MANE Select NP_000086.2:p.Asn453Ser