Canonical Allele Identifier: CA201435

Gene: COMP

Linked Data

• ClinVar Variation Id: 194913
• ClinVar RCV Id: RCV000175389 ; RCV000911517
• dbSNP Id: rs150428337
• ExAC: 19:18893737 C / T
• gnomAD v2: 19-18893737-C-T
• gnomAD v3: 19-18782927-C-T
• gnomAD v4: 19-18782927-C-T
• MyVariant Identifiers: chr19:g.18893737C>T (hg19) ; chr19:g.18782927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18782927C>T , CM000681.2:g.18782927C>T	GRCh38
NC_000019.9:g.18893737C>T , CM000681.1:g.18893737C>T	GRCh37
NC_000019.8:g.18754737C>T	NCBI36
NG_007070.1:g.13378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.2262G>A MANE Select	ENSP00000222271.2:p.Leu754=
ENST00000222271.6:c.2262G>A	ENSP00000222271.2:p.Leu754=
ENST00000425807.1:c.2103G>A	ENSP00000403792.1:p.Leu701=
ENST00000542601.6:c.2163G>A	ENSP00000439156.2:p.Leu721=
NM_000095.2:c.2262G>A	NP_000086.2:p.Leu754=
NM_000095.3:c.2262G>A MANE Select	NP_000086.2:p.Leu754=