Canonical Allele Identifier: CA17071187
Gene: CCDC27 HGNC NCBI

Linked Data

dbSNP Id: rs139984517
COSMIC: COSM108635
MyVariant Identifiers: chr1:g.3680269G>A (hg19) chr1:g.3763705G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3763705G>A , CM000663.2:g.3763705G>A GRCh38
NC_000001.10:g.3680269G>A , CM000663.1:g.3680269G>A GRCh37
NC_000001.9:g.3670129G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000294600.7:c.1322-1G>A MANE Select ENSP00000294600.2:n.1322-1G>A
ENST00000294600.6:c.1322-1G>A ENSP00000294600.2:n.1322-1G>A
ENST00000462521.2:c.*835-1G>A ENSP00000463275.1:n.*835-1G>A
NM_152492.2:c.1322-1G>A NP_689705.2:n.1322-1G>A
XM_011540780.1:c.1322-1G>A XP_011539082.1:n.1322-1G>A
XM_011540781.1:c.1322-1G>A XP_011539083.1:n.1322-1G>A
XM_011540782.1:c.1322-1G>A XP_011539084.1:n.1322-1G>A
XM_011540783.1:c.968-1G>A XP_011539085.1:n.968-1G>A
XR_946553.1:n.1406-1G>A
XR_946554.1:n.1406-1G>A
XM_017000402.1:c.1552G>A XP_016855891.1:p.Gly518Arg
XM_017000403.1:c.1552G>A XP_016855892.1:p.Gly518Arg
XM_017000404.2:c.1552G>A XP_016855893.1:p.Gly518Arg
XM_017000405.1:c.1552G>A XP_016855894.1:p.Gly518Arg
XM_017000406.1:c.1198G>A XP_016855895.1:p.Gly400Arg
XR_001736991.1:n.1636G>A
XR_001736992.1:n.1636G>A
NM_152492.3:c.1322-1G>A MANE Select NP_689705.2:n.1322-1G>A
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