Canonical Allele Identifier: CA550353

Gene: CCDC27

Linked Data

• dbSNP Id: rs777536253
• ExAC: 1:3680273 T / C
• gnomAD v2: 1-3680273-T-C
• gnomAD v4: 1-3763709-T-C
• MyVariant Identifiers: chr1:g.3680273T>C (hg19) ; chr1:g.3763709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3763709T>C , CM000663.2:g.3763709T>C	GRCh38
NC_000001.10:g.3680273T>C , CM000663.1:g.3680273T>C	GRCh37
NC_000001.9:g.3670133T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294600.7:c.1325T>C MANE Select	ENSP00000294600.2:p.Val442Ala
ENST00000294600.6:c.1325T>C	ENSP00000294600.2:p.Val442Ala
ENST00000462521.2:c.*838T>C	ENSP00000463275.1:n.*838T>C
NM_152492.2:c.1325T>C	NP_689705.2:p.Val442Ala
XM_011540780.1:c.1325T>C	XP_011539082.1:p.Val442Ala
XM_011540781.1:c.1325T>C	XP_011539083.1:p.Val442Ala
XM_011540782.1:c.1325T>C	XP_011539084.1:p.Val442Ala
XM_011540783.1:c.971T>C	XP_011539085.1:p.Val324Ala
XR_946553.1:n.1409T>C
XR_946554.1:n.1409T>C
XM_017000402.1:c.1556T>C	XP_016855891.1:p.Val519Ala
XM_017000403.1:c.1556T>C	XP_016855892.1:p.Val519Ala
XM_017000404.2:c.1556T>C	XP_016855893.1:p.Val519Ala
XM_017000405.1:c.1556T>C	XP_016855894.1:p.Val519Ala
XM_017000406.1:c.1202T>C	XP_016855895.1:p.Val401Ala
XR_001736991.1:n.1640T>C
XR_001736992.1:n.1640T>C
NM_152492.3:c.1325T>C MANE Select	NP_689705.2:p.Val442Ala