Canonical Allele Identifier: CA404887646

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18898300G>A (hg19) ; chr19:g.18787491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787491G>A , CM000681.2:g.18787491G>A	GRCh38
NC_000019.9:g.18898300G>A , CM000681.1:g.18898300G>A	GRCh37
NC_000019.8:g.18759300G>A	NCBI36
NG_007070.1:g.8815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1135C>T MANE Select	ENSP00000222271.2:p.Arg379Trp
ENST00000222271.6:c.1135C>T	ENSP00000222271.2:p.Arg379Trp
ENST00000425807.1:c.976C>T	ENSP00000403792.1:p.Arg326Trp
ENST00000542601.6:c.1036C>T	ENSP00000439156.2:p.Arg346Trp
NM_000095.2:c.1135C>T	NP_000086.2:p.Arg379Trp
NM_000095.3:c.1135C>T MANE Select	NP_000086.2:p.Arg379Trp