Canonical Allele Identifier: CA404883075

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896569G>T (hg19) ; chr19:g.18785759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785759G>T , CM000681.2:g.18785759G>T	GRCh38
NC_000019.9:g.18896569G>T , CM000681.1:g.18896569G>T	GRCh37
NC_000019.8:g.18757569G>T	NCBI36
NG_007070.1:g.10546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1582C>A MANE Select	ENSP00000222271.2:p.Leu528Ile
ENST00000222271.6:c.1582C>A	ENSP00000222271.2:p.Leu528Ile
ENST00000425807.1:c.1423C>A	ENSP00000403792.1:p.Leu475Ile
ENST00000542601.6:c.1483C>A	ENSP00000439156.2:p.Leu495Ile
NM_000095.2:c.1582C>A	NP_000086.2:p.Leu528Ile
NM_000095.3:c.1582C>A MANE Select	NP_000086.2:p.Leu528Ile