Canonical Allele Identifier: CA404875056

Gene: COMP

Linked Data

• gnomAD v4: 19-18783137-G-T
• MyVariant Identifiers: chr19:g.18893947G>T (hg19) ; chr19:g.18783137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18783137G>T , CM000681.2:g.18783137G>T	GRCh38
NC_000019.9:g.18893947G>T , CM000681.1:g.18893947G>T	GRCh37
NC_000019.8:g.18754947G>T	NCBI36
NG_007070.1:g.13168C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.2144C>A MANE Select	ENSP00000222271.2:p.Thr715Lys
ENST00000222271.6:c.2144C>A	ENSP00000222271.2:p.Thr715Lys
ENST00000425807.1:c.1985C>A	ENSP00000403792.1:p.Thr662Lys
ENST00000542601.6:c.2045C>A	ENSP00000439156.2:p.Thr682Lys
NM_000095.2:c.2144C>A	NP_000086.2:p.Thr715Lys
NM_000095.3:c.2144C>A MANE Select	NP_000086.2:p.Thr715Lys