Canonical Allele Identifier: CA506052702

Gene: COMP

Linked Data

• dbSNP Id: rs1386972140
• gnomAD v4: 19-18786104-C-G
• MyVariant Identifiers: chr19:g.18896914C>G (hg19) ; chr19:g.18786104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786104C>G , CM000681.2:g.18786104C>G	GRCh38
NC_000019.9:g.18896914C>G , CM000681.1:g.18896914C>G	GRCh37
NC_000019.8:g.18757914C>G	NCBI36
NG_007070.1:g.10201G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1350G>C MANE Select	ENSP00000222271.2:p.Thr450=
ENST00000222271.6:c.1350G>C	ENSP00000222271.2:p.Thr450=
ENST00000425807.1:c.1191G>C	ENSP00000403792.1:p.Thr397=
ENST00000542601.6:c.1251G>C	ENSP00000439156.2:p.Thr417=
NM_000095.2:c.1350G>C	NP_000086.2:p.Thr450=
NM_000095.3:c.1350G>C MANE Select	NP_000086.2:p.Thr450=