Canonical Allele Identifier: CA404879204

Gene: COMP

Linked Data

• gnomAD v4: 19-18785072-C-A
• MyVariant Identifiers: chr19:g.18895882C>A (hg19) ; chr19:g.18785072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785072C>A , CM000681.2:g.18785072C>A	GRCh38
NC_000019.9:g.18895882C>A , CM000681.1:g.18895882C>A	GRCh37
NC_000019.8:g.18756882C>A	NCBI36
NG_007070.1:g.11233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1738G>T MANE Select	ENSP00000222271.2:p.Val580Leu
ENST00000222271.6:c.1738G>T	ENSP00000222271.2:p.Val580Leu
ENST00000425807.1:c.1579G>T	ENSP00000403792.1:p.Val527Leu
ENST00000542601.6:c.1639G>T	ENSP00000439156.2:p.Val547Leu
NM_000095.2:c.1738G>T	NP_000086.2:p.Val580Leu
NM_000095.3:c.1738G>T MANE Select	NP_000086.2:p.Val580Leu