Canonical Allele Identifier: CA506117293
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18896779C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785969C>A , CM000681.2:g.18785969C>A GRCh38
NC_000019.9:g.18896779C>A , CM000681.1:g.18896779C>A GRCh37
NC_000019.8:g.18757779C>A NCBI36
NG_007070.1:g.10336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1485G>T MANE Select ENSP00000222271.2:p.Ala495=
ENST00000222271.6:c.1485G>T ENSP00000222271.2:p.Ala495=
ENST00000425807.1:c.1326G>T ENSP00000403792.1:p.Ala442=
ENST00000542601.6:c.1386G>T ENSP00000439156.2:p.Ala462=
NM_000095.2:c.1485G>T NP_000086.2:p.Ala495=
NM_000095.3:c.1485G>T MANE Select NP_000086.2:p.Ala495=