Canonical Allele Identifier: CA404875046
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18783131-A-G
MyVariant Identifiers: chr19:g.18893941A>G (hg19) chr19:g.18783131A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783131A>G , CM000681.2:g.18783131A>G GRCh38
NC_000019.9:g.18893941A>G , CM000681.1:g.18893941A>G GRCh37
NC_000019.8:g.18754941A>G NCBI36
NG_007070.1:g.13174T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2150T>C MANE Select ENSP00000222271.2:p.Met717Thr
ENST00000222271.6:c.2150T>C ENSP00000222271.2:p.Met717Thr
ENST00000425807.1:c.1991T>C ENSP00000403792.1:p.Met664Thr
ENST00000542601.6:c.2051T>C ENSP00000439156.2:p.Met684Thr
NM_000095.2:c.2150T>C NP_000086.2:p.Met717Thr
NM_000095.3:c.2150T>C MANE Select NP_000086.2:p.Met717Thr
Search 100 bp 5'
Search 100 bp 3'