Canonical Allele Identifier: CA404884156
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1252223404
gnomAD v2: 19-18896789-T-A
gnomAD v4: 19-18785979-T-A
COSMIC: COSM417690
MyVariant Identifiers: chr19:g.18896789T>A (hg19) chr19:g.18785979T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785979T>A , CM000681.2:g.18785979T>A GRCh38
NC_000019.9:g.18896789T>A , CM000681.1:g.18896789T>A GRCh37
NC_000019.8:g.18757789T>A NCBI36
NG_007070.1:g.10326A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1475A>T MANE Select ENSP00000222271.2:p.Gln492Leu
ENST00000222271.6:c.1475A>T ENSP00000222271.2:p.Gln492Leu
ENST00000425807.1:c.1316A>T ENSP00000403792.1:p.Gln439Leu
ENST00000542601.6:c.1376A>T ENSP00000439156.2:p.Gln459Leu
NM_000095.2:c.1475A>T NP_000086.2:p.Gln492Leu
NM_000095.3:c.1475A>T MANE Select NP_000086.2:p.Gln492Leu
Search 100 bp 5'
Search 100 bp 3'