Canonical Allele Identifier: CA506117453
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18896594C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785784C>G , CM000681.2:g.18785784C>G GRCh38
NC_000019.9:g.18896594C>G , CM000681.1:g.18896594C>G GRCh37
NC_000019.8:g.18757594C>G NCBI36
NG_007070.1:g.10521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1557G>C MANE Select ENSP00000222271.2:p.Val519=
ENST00000222271.6:c.1557G>C ENSP00000222271.2:p.Val519=
ENST00000425807.1:c.1398G>C ENSP00000403792.1:p.Val466=
ENST00000542601.6:c.1458G>C ENSP00000439156.2:p.Val486=
NM_000095.2:c.1557G>C NP_000086.2:p.Val519=
NM_000095.3:c.1557G>C MANE Select NP_000086.2:p.Val519=