Canonical Allele Identifier: CA404885920
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786273A>G , CM000681.2:g.18786273A>G GRCh38
NC_000019.9:g.18897083A>G , CM000681.1:g.18897083A>G GRCh37
NC_000019.8:g.18758083A>G NCBI36
NG_007070.1:g.10032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1273T>C MANE Select ENSP00000222271.2:p.Phe425Leu
ENST00000222271.6:c.1273T>C ENSP00000222271.2:p.Phe425Leu
ENST00000425807.1:c.1114T>C ENSP00000403792.1:p.Phe372Leu
ENST00000542601.6:c.1174T>C ENSP00000439156.2:p.Phe392Leu
ENST00000612179.1:n.523T>C
NM_000095.2:c.1273T>C NP_000086.2:p.Phe425Leu
NM_000095.3:c.1273T>C MANE Select NP_000086.2:p.Phe425Leu