Canonical Allele Identifier: CA404896654

Gene: COMP

Linked Data

• gnomAD v4: 19-18789277-G-T
• MyVariant Identifiers: chr19:g.18900086G>T (hg19) ; chr19:g.18789277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789277G>T , CM000681.2:g.18789277G>T	GRCh38
NC_000019.9:g.18900086G>T , CM000681.1:g.18900086G>T	GRCh37
NC_000019.8:g.18761086G>T	NCBI36
NG_007070.1:g.7029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.411C>A MANE Select	ENSP00000222271.2:p.Phe137Leu
ENST00000222271.6:c.411C>A	ENSP00000222271.2:p.Phe137Leu
ENST00000425807.1:c.391-385C>A	ENSP00000403792.1:n.391-385C>A
ENST00000542601.6:c.312C>A	ENSP00000439156.2:p.Phe104Leu
NM_000095.2:c.411C>A	NP_000086.2:p.Phe137Leu
NM_000095.3:c.411C>A MANE Select	NP_000086.2:p.Phe137Leu