Canonical Allele Identifier: CA202978

Gene: COMP

Linked Data

• ClinVar Variation Id: 197627
• ClinVar RCV Id: RCV000178711 ; RCV000259246 ; RCV000354091 ; RCV000881662 ; RCV002485172 ; RCV002277410
• dbSNP Id: rs115338183
• ExAC: 19:18899986 C / T
• gnomAD v2: 19-18899986-C-T
• gnomAD v3: 19-18789177-C-T
• gnomAD v4: 19-18789177-C-T
• MyVariant Identifiers: chr19:g.18899986C>T (hg19) ; chr19:g.18789177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789177C>T , CM000681.2:g.18789177C>T	GRCh38
NC_000019.9:g.18899986C>T , CM000681.1:g.18899986C>T	GRCh37
NC_000019.8:g.18760986C>T	NCBI36
NG_007070.1:g.7129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.511G>A MANE Select	ENSP00000222271.2:p.Ala171Thr
ENST00000222271.6:c.511G>A	ENSP00000222271.2:p.Ala171Thr
ENST00000425807.1:c.391-285G>A	ENSP00000403792.1:n.391-285G>A
ENST00000542601.6:c.412G>A	ENSP00000439156.2:p.Ala138Thr
NM_000095.2:c.511G>A	NP_000086.2:p.Ala171Thr
NM_000095.3:c.511G>A MANE Select	NP_000086.2:p.Ala171Thr