Canonical Allele Identifier: CA506052728

Gene: COMP

Linked Data

• gnomAD v4: 19-18786125-G-A
• MyVariant Identifiers: chr19:g.18896935G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786125G>A , CM000681.2:g.18786125G>A	GRCh38
NC_000019.9:g.18896935G>A , CM000681.1:g.18896935G>A	GRCh37
NC_000019.8:g.18757935G>A	NCBI36
NG_007070.1:g.10180C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1329C>T MANE Select	ENSP00000222271.2:p.Asp443=
ENST00000222271.6:c.1329C>T	ENSP00000222271.2:p.Asp443=
ENST00000425807.1:c.1170C>T	ENSP00000403792.1:p.Asp390=
ENST00000542601.6:c.1230C>T	ENSP00000439156.2:p.Asp410=
ENST00000612179.1:n.579C>T
NM_000095.2:c.1329C>T	NP_000086.2:p.Asp443=
NM_000095.3:c.1329C>T MANE Select	NP_000086.2:p.Asp443=