Canonical Allele Identifier: CA404885053
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1157796916
gnomAD v2: 19-18896918-G-A
gnomAD v4: 19-18786108-G-A
MyVariant Identifiers: chr19:g.18896918G>A (hg19) chr19:g.18786108G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786108G>A , CM000681.2:g.18786108G>A GRCh38
NC_000019.9:g.18896918G>A , CM000681.1:g.18896918G>A GRCh37
NC_000019.8:g.18757918G>A NCBI36
NG_007070.1:g.10197C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1346C>T MANE Select ENSP00000222271.2:p.Pro449Leu
ENST00000222271.6:c.1346C>T ENSP00000222271.2:p.Pro449Leu
ENST00000425807.1:c.1187C>T ENSP00000403792.1:p.Pro396Leu
ENST00000542601.6:c.1247C>T ENSP00000439156.2:p.Pro416Leu
NM_000095.2:c.1346C>T NP_000086.2:p.Pro449Leu
NM_000095.3:c.1346C>T MANE Select NP_000086.2:p.Pro449Leu
Search 100 bp 5'
Search 100 bp 3'