Canonical Allele Identifier: CA404887736

Gene: COMP

Linked Data

• dbSNP Id: rs1479971366
• gnomAD v2: 19-18898311-A-T
• gnomAD v3: 19-18787502-A-T
• gnomAD v4: 19-18787502-A-T
• MyVariant Identifiers: chr19:g.18898311A>T (hg19) ; chr19:g.18787502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787502A>T , CM000681.2:g.18787502A>T	GRCh38
NC_000019.9:g.18898311A>T , CM000681.1:g.18898311A>T	GRCh37
NC_000019.8:g.18759311A>T	NCBI36
NG_007070.1:g.8804T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1124T>A MANE Select	ENSP00000222271.2:p.Ile375Asn
ENST00000222271.6:c.1124T>A	ENSP00000222271.2:p.Ile375Asn
ENST00000425807.1:c.965T>A	ENSP00000403792.1:p.Ile322Asn
ENST00000542601.6:c.1025T>A	ENSP00000439156.2:p.Ile342Asn
NM_000095.2:c.1124T>A	NP_000086.2:p.Ile375Asn
NM_000095.3:c.1124T>A MANE Select	NP_000086.2:p.Ile375Asn