Canonical Allele Identifier: CA16607768
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 381656
ClinVar RCV Id: RCV000433591
dbSNP Id: rs1057521130
MyVariant Identifiers: chr19:g.18898323C>T (hg19) chr19:g.18787514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787514C>T , CM000681.2:g.18787514C>T GRCh38
NC_000019.9:g.18898323C>T , CM000681.1:g.18898323C>T GRCh37
NC_000019.8:g.18759323C>T NCBI36
NG_007070.1:g.8792G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1112G>A MANE Select ENSP00000222271.2:p.Cys371Tyr
ENST00000222271.6:c.1112G>A ENSP00000222271.2:p.Cys371Tyr
ENST00000425807.1:c.953G>A ENSP00000403792.1:p.Cys318Tyr
ENST00000542601.6:c.1013G>A ENSP00000439156.2:p.Cys338Tyr
NM_000095.2:c.1112G>A NP_000086.2:p.Cys371Tyr
NM_000095.3:c.1112G>A MANE Select NP_000086.2:p.Cys371Tyr
Search 100 bp 5'
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