Canonical Allele Identifier: CA404883144

Gene: COMP

Linked Data

• MyVariant Identifiers: chr19:g.18896580G>A (hg19) ; chr19:g.18785770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785770G>A , CM000681.2:g.18785770G>A	GRCh38
NC_000019.9:g.18896580G>A , CM000681.1:g.18896580G>A	GRCh37
NC_000019.8:g.18757580G>A	NCBI36
NG_007070.1:g.10535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1571C>T MANE Select	ENSP00000222271.2:p.Ala524Val
ENST00000222271.6:c.1571C>T	ENSP00000222271.2:p.Ala524Val
ENST00000425807.1:c.1412C>T	ENSP00000403792.1:p.Ala471Val
ENST00000542601.6:c.1472C>T	ENSP00000439156.2:p.Ala491Val
NM_000095.2:c.1571C>T	NP_000086.2:p.Ala524Val
NM_000095.3:c.1571C>T MANE Select	NP_000086.2:p.Ala524Val