Canonical Allele Identifier: CA506052341
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1160974567
gnomAD v2: 19-18895724-C-T
gnomAD v4: 19-18784914-C-T
MyVariant Identifiers: chr19:g.18895724C>T (hg19) chr19:g.18784914C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784914C>T , CM000681.2:g.18784914C>T GRCh38
NC_000019.9:g.18895724C>T , CM000681.1:g.18895724C>T GRCh37
NC_000019.8:g.18756724C>T NCBI36
NG_007070.1:g.11391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1896G>A MANE Select ENSP00000222271.2:p.Glu632=
ENST00000222271.6:c.1896G>A ENSP00000222271.2:p.Glu632=
ENST00000425807.1:c.1737G>A ENSP00000403792.1:p.Glu579=
ENST00000542601.6:c.1797G>A ENSP00000439156.2:p.Glu599=
NM_000095.2:c.1896G>A NP_000086.2:p.Glu632=
NM_000095.3:c.1896G>A MANE Select NP_000086.2:p.Glu632=
Search 100 bp 5'
Search 100 bp 3'