Canonical Allele Identifier: CA120167
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9189
ClinVar RCV Id: RCV000009767 RCV001851774 RCV002054430
dbSNP Id: rs137852654
MyVariant Identifiers: chr19:g.18896582G>C (hg19) chr19:g.18785772G>C (hg38)
PubMed: PMID:9021009
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785772G>C , CM000681.2:g.18785772G>C GRCh38
NC_000019.9:g.18896582G>C , CM000681.1:g.18896582G>C GRCh37
NC_000019.8:g.18757582G>C NCBI36
NG_007070.1:g.10533C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1569C>G MANE Select ENSP00000222271.2:p.Asn523Lys
ENST00000222271.6:c.1569C>G ENSP00000222271.2:p.Asn523Lys
ENST00000425807.1:c.1410C>G ENSP00000403792.1:p.Asn470Lys
ENST00000542601.6:c.1470C>G ENSP00000439156.2:p.Asn490Lys
NM_000095.2:c.1569C>G NP_000086.2:p.Asn523Lys
NM_000095.3:c.1569C>G MANE Select NP_000086.2:p.Asn523Lys
Search 100 bp 5'
Search 100 bp 3'