Canonical Allele Identifier: CA2813846950

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18784845T>A , CM000681.2:g.18784845T>A	GRCh38
NC_000019.9:g.18895655T>A , CM000681.1:g.18895655T>A	GRCh37
NC_000019.8:g.18756655T>A	NCBI36
NG_007070.1:g.11460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1914+51A>T MANE Select	ENSP00000222271.2:n.1914+51A>T
ENST00000222271.6:c.1914+51A>T	ENSP00000222271.2:n.1914+51A>T
ENST00000425807.1:c.1755+51A>T	ENSP00000403792.1:n.1755+51A>T
ENST00000542601.6:c.1815+51A>T	ENSP00000439156.2:n.1815+51A>T
NM_000095.2:c.1914+51A>T	NP_000086.2:n.1914+51A>T
NM_000095.3:c.1914+51A>T MANE Select	NP_000086.2:n.1914+51A>T