Canonical Allele Identifier: CA306254642
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 3040220
ClinVar RCV Id: RCV003924154
dbSNP Id: rs1001694143
gnomAD v2: 19-18896564-G-A
gnomAD v3: 19-18785754-G-A
gnomAD v4: 19-18785754-G-A
MyVariant Identifiers: chr19:g.18896564G>A (hg19) chr19:g.18785754G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785754G>A , CM000681.2:g.18785754G>A GRCh38
NC_000019.9:g.18896564G>A , CM000681.1:g.18896564G>A GRCh37
NC_000019.8:g.18757564G>A NCBI36
NG_007070.1:g.10551C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1587C>T MANE Select ENSP00000222271.2:p.Thr529=
ENST00000222271.6:c.1587C>T ENSP00000222271.2:p.Thr529=
ENST00000425807.1:c.1428C>T ENSP00000403792.1:p.Thr476=
ENST00000542601.6:c.1488C>T ENSP00000439156.2:p.Thr496=
NM_000095.2:c.1587C>T NP_000086.2:p.Thr529=
NM_000095.3:c.1587C>T MANE Select NP_000086.2:p.Thr529=
Search 100 bp 5'
Search 100 bp 3'