Canonical Allele Identifier: CA506117354

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896537C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785727C>A , CM000681.2:g.18785727C>A	GRCh38
NC_000019.9:g.18896537C>A , CM000681.1:g.18896537C>A	GRCh37
NC_000019.8:g.18757537C>A	NCBI36
NG_007070.1:g.10578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1614G>T MANE Select	ENSP00000222271.2:p.Val538=
ENST00000222271.6:c.1614G>T	ENSP00000222271.2:p.Val538=
ENST00000425807.1:c.1455G>T	ENSP00000403792.1:p.Val485=
ENST00000542601.6:c.1515G>T	ENSP00000439156.2:p.Val505=
NM_000095.2:c.1614G>T	NP_000086.2:p.Val538=
NM_000095.3:c.1614G>T MANE Select	NP_000086.2:p.Val538=