Canonical Allele Identifier: CA17071200

Gene: CCDC27

Linked Data

• dbSNP Id: rs147429337
• gnomAD v4: 1-3763708-G-C
• MyVariant Identifiers: chr1:g.3680272G>C (hg19) ; chr1:g.3763708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3763708G>C , CM000663.2:g.3763708G>C	GRCh38
NC_000001.10:g.3680272G>C , CM000663.1:g.3680272G>C	GRCh37
NC_000001.9:g.3670132G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294600.7:c.1324G>C MANE Select	ENSP00000294600.2:p.Val442Leu
ENST00000294600.6:c.1324G>C	ENSP00000294600.2:p.Val442Leu
ENST00000462521.2:c.*837G>C	ENSP00000463275.1:n.*837G>C
NM_152492.2:c.1324G>C	NP_689705.2:p.Val442Leu
XM_011540780.1:c.1324G>C	XP_011539082.1:p.Val442Leu
XM_011540781.1:c.1324G>C	XP_011539083.1:p.Val442Leu
XM_011540782.1:c.1324G>C	XP_011539084.1:p.Val442Leu
XM_011540783.1:c.970G>C	XP_011539085.1:p.Val324Leu
XR_946553.1:n.1408G>C
XR_946554.1:n.1408G>C
XM_017000402.1:c.1555G>C	XP_016855891.1:p.Val519Leu
XM_017000403.1:c.1555G>C	XP_016855892.1:p.Val519Leu
XM_017000404.2:c.1555G>C	XP_016855893.1:p.Val519Leu
XM_017000405.1:c.1555G>C	XP_016855894.1:p.Val519Leu
XM_017000406.1:c.1201G>C	XP_016855895.1:p.Val401Leu
XR_001736991.1:n.1639G>C
XR_001736992.1:n.1639G>C
NM_152492.3:c.1324G>C MANE Select	NP_689705.2:p.Val442Leu