Canonical Allele Identifier: CA9316364
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs771590987
ExAC: 19:18896617 T / G
gnomAD v2: 19-18896617-T-G
gnomAD v4: 19-18785807-T-G
MyVariant Identifiers: chr19:g.18896617T>G (hg19) chr19:g.18785807T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785807T>G , CM000681.2:g.18785807T>G GRCh38
NC_000019.9:g.18896617T>G , CM000681.1:g.18896617T>G GRCh37
NC_000019.8:g.18757617T>G NCBI36
NG_007070.1:g.10498A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1534A>C MANE Select ENSP00000222271.2:p.Lys512Gln
ENST00000222271.6:c.1534A>C ENSP00000222271.2:p.Lys512Gln
ENST00000425807.1:c.1375A>C ENSP00000403792.1:p.Lys459Gln
ENST00000542601.6:c.1435A>C ENSP00000439156.2:p.Lys479Gln
NM_000095.2:c.1534A>C NP_000086.2:p.Lys512Gln
NM_000095.3:c.1534A>C MANE Select NP_000086.2:p.Lys512Gln
Search 100 bp 5'
Search 100 bp 3'