Canonical Allele Identifier: CA9316715

Gene: COMP

Linked Data

• ClinVar Variation Id: 328622
• ClinVar RCV Id: RCV000333202 ; RCV000369222 ; RCV000960985
• dbSNP Id: rs202241721
• ExAC: 19:18900029 C / A
• gnomAD v2: 19-18900029-C-A
• gnomAD v3: 19-18789220-C-A
• gnomAD v4: 19-18789220-C-A
• MyVariant Identifiers: chr19:g.18900029C>A (hg19) ; chr19:g.18789220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789220C>A , CM000681.2:g.18789220C>A	GRCh38
NC_000019.9:g.18900029C>A , CM000681.1:g.18900029C>A	GRCh37
NC_000019.8:g.18761029C>A	NCBI36
NG_007070.1:g.7086G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.468G>T MANE Select	ENSP00000222271.2:p.Pro156=
ENST00000222271.6:c.468G>T	ENSP00000222271.2:p.Pro156=
ENST00000425807.1:c.391-328G>T	ENSP00000403792.1:n.391-328G>T
ENST00000542601.6:c.369G>T	ENSP00000439156.2:p.Pro123=
NM_000095.2:c.468G>T	NP_000086.2:p.Pro156=
NM_000095.3:c.468G>T MANE Select	NP_000086.2:p.Pro156=