Canonical Allele Identifier: CA9316281

Gene: COMP

Linked Data

• dbSNP Id: rs770529459
• ExAC: 19:18895912 G / C
• gnomAD v2: 19-18895912-G-C
• gnomAD v4: 19-18785102-G-C
• MyVariant Identifiers: chr19:g.18895912G>C (hg19) ; chr19:g.18785102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785102G>C , CM000681.2:g.18785102G>C	GRCh38
NC_000019.9:g.18895912G>C , CM000681.1:g.18895912G>C	GRCh37
NC_000019.8:g.18756912G>C	NCBI36
NG_007070.1:g.11203C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1718-10C>G MANE Select	ENSP00000222271.2:n.1718-10C>G
ENST00000222271.6:c.1718-10C>G	ENSP00000222271.2:n.1718-10C>G
ENST00000425807.1:c.1559-10C>G	ENSP00000403792.1:n.1559-10C>G
ENST00000542601.6:c.1619-10C>G	ENSP00000439156.2:n.1619-10C>G
NM_000095.2:c.1718-10C>G	NP_000086.2:n.1718-10C>G
NM_000095.3:c.1718-10C>G MANE Select	NP_000086.2:n.1718-10C>G