Canonical Allele Identifier: CA404883072
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785759G>A , CM000681.2:g.18785759G>A GRCh38
NC_000019.9:g.18896569G>A , CM000681.1:g.18896569G>A GRCh37
NC_000019.8:g.18757569G>A NCBI36
NG_007070.1:g.10546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1582C>T MANE Select ENSP00000222271.2:p.Leu528Phe
ENST00000222271.6:c.1582C>T ENSP00000222271.2:p.Leu528Phe
ENST00000425807.1:c.1423C>T ENSP00000403792.1:p.Leu475Phe
ENST00000542601.6:c.1483C>T ENSP00000439156.2:p.Leu495Phe
NM_000095.2:c.1582C>T NP_000086.2:p.Leu528Phe
NM_000095.3:c.1582C>T MANE Select NP_000086.2:p.Leu528Phe