Canonical Allele Identifier: CA9316731

Gene: COMP

Linked Data

• ClinVar Variation Id: 1055714
• ClinVar RCV Id: RCV001364433 ; RCV003169832
• dbSNP Id: rs200638121
• ExAC: 19:18900101 G / C
• gnomAD v2: 19-18900101-G-C
• gnomAD v3: 19-18789292-G-C
• gnomAD v4: 19-18789292-G-C
• MyVariant Identifiers: chr19:g.18900101G>C (hg19) ; chr19:g.18789292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789292G>C , CM000681.2:g.18789292G>C	GRCh38
NC_000019.9:g.18900101G>C , CM000681.1:g.18900101G>C	GRCh37
NC_000019.8:g.18761101G>C	NCBI36
NG_007070.1:g.7014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.396C>G MANE Select	ENSP00000222271.2:p.Asn132Lys
ENST00000222271.6:c.396C>G	ENSP00000222271.2:p.Asn132Lys
ENST00000425807.1:c.391-400C>G	ENSP00000403792.1:n.391-400C>G
ENST00000542601.6:c.297C>G	ENSP00000439156.2:p.Asn99Lys
NM_000095.2:c.396C>G	NP_000086.2:p.Asn132Lys
NM_000095.3:c.396C>G MANE Select	NP_000086.2:p.Asn132Lys