Canonical Allele Identifier: CA9316346
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs772420147
ExAC: 19:18896533 C / A
gnomAD v2: 19-18896533-C-A
gnomAD v4: 19-18785723-C-A
MyVariant Identifiers: chr19:g.18896533C>A (hg19) chr19:g.18785723C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785723C>A , CM000681.2:g.18785723C>A GRCh38
NC_000019.9:g.18896533C>A , CM000681.1:g.18896533C>A GRCh37
NC_000019.8:g.18757533C>A NCBI36
NG_007070.1:g.10582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1618G>T MANE Select ENSP00000222271.2:p.Asp540Tyr
ENST00000222271.6:c.1618G>T ENSP00000222271.2:p.Asp540Tyr
ENST00000425807.1:c.1459G>T ENSP00000403792.1:p.Asp487Tyr
ENST00000542601.6:c.1519G>T ENSP00000439156.2:p.Asp507Tyr
NM_000095.2:c.1618G>T NP_000086.2:p.Asp540Tyr
NM_000095.3:c.1618G>T MANE Select NP_000086.2:p.Asp540Tyr
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