Canonical Allele Identifier: CA9316559

Gene: COMP

Linked Data

• dbSNP Id: rs755952875
• ExAC: 19:18898419 G / A
• gnomAD v2: 19-18898419-G-A
• gnomAD v4: 19-18787610-G-A
• MyVariant Identifiers: chr19:g.18898419G>A (hg19) ; chr19:g.18787610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787610G>A , CM000681.2:g.18787610G>A	GRCh38
NC_000019.9:g.18898419G>A , CM000681.1:g.18898419G>A	GRCh37
NC_000019.8:g.18759419G>A	NCBI36
NG_007070.1:g.8696C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222271.7:c.1016C>T MANE Select	ENSP00000222271.2:p.Thr339Met
ENST00000222271.6:c.1016C>T	ENSP00000222271.2:p.Thr339Met
ENST00000425807.1:c.857C>T	ENSP00000403792.1:p.Thr286Met
ENST00000542601.6:c.917C>T	ENSP00000439156.2:p.Thr306Met
NM_000095.2:c.1016C>T	NP_000086.2:p.Thr339Met
NM_000095.3:c.1016C>T MANE Select	NP_000086.2:p.Thr339Met