Canonical Allele Identifier: CA186041

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 183278
• ClinVar RCV Id: RCV000162100 ; RCV000171331 ; RCV001804890 ; RCV001850285 ; RCV002515122
• dbSNP Id: rs730882199
• ExAC: 2:219679346 C / T
• gnomAD v2: 2-219679346-C-T
• gnomAD v3: 2-218814623-C-T
• gnomAD v4: 2-218814623-C-T
• COSMIC: COSM4091535
• MyVariant Identifiers: chr2:g.219679346C>T (hg19) ; chr2:g.218814623C>T (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814623C>T , CM000664.2:g.218814623C>T	GRCh38
NC_000002.11:g.219679346C>T , CM000664.1:g.219679346C>T	GRCh37
NC_000002.10:g.219387590C>T	NCBI36
NG_007959.1:g.37875C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.1342C>T MANE Select	ENSP00000258415.4:p.Arg448Cys
ENST00000258415.8:c.1342C>T	ENSP00000258415.4:p.Arg448Cys
ENST00000494263.5:n.2054C>T
NM_000784.3:c.1342C>T	NP_000775.1:p.Arg448Cys
XM_017003488.2:c.922C>T	XP_016858977.1:p.Arg308Cys
NM_000784.4:c.1342C>T MANE Select	NP_000775.1:p.Arg448Cys