Canonical Allele Identifier: CA404877900
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18895739G>T (hg19) chr19:g.18784929G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784929G>T , CM000681.2:g.18784929G>T GRCh38
NC_000019.9:g.18895739G>T , CM000681.1:g.18895739G>T GRCh37
NC_000019.8:g.18756739G>T NCBI36
NG_007070.1:g.11376C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1881C>A MANE Select ENSP00000222271.2:p.Phe627Leu
ENST00000222271.6:c.1881C>A ENSP00000222271.2:p.Phe627Leu
ENST00000425807.1:c.1722C>A ENSP00000403792.1:p.Phe574Leu
ENST00000542601.6:c.1782C>A ENSP00000439156.2:p.Phe594Leu
NM_000095.2:c.1881C>A NP_000086.2:p.Phe627Leu
NM_000095.3:c.1881C>A MANE Select NP_000086.2:p.Phe627Leu
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