Canonical Allele Identifier: CA345222

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 65885
• ClinVar RCV Id: RCV000056130 ; RCV001268441 ; RCV003964910
• dbSNP Id: rs201346271
• ExAC: 2:219677144 G / C
• gnomAD v2: 2-219677144-G-C
• gnomAD v3: 2-218812421-G-C
• gnomAD v4: 2-218812421-G-C
• MyVariant Identifiers: chr2:g.219677144G>C (hg19) ; chr2:g.218812421G>C (hg38)
• PubMed: PMID:8827518 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812421G>C , CM000664.2:g.218812421G>C	GRCh38
NC_000002.11:g.219677144G>C , CM000664.1:g.219677144G>C	GRCh37
NC_000002.10:g.219385388G>C	NCBI36
NG_007959.1:g.35673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.646G>C MANE Select	ENSP00000258415.4:p.Ala216Pro
ENST00000258415.8:c.646G>C	ENSP00000258415.4:p.Ala216Pro
ENST00000411688.1:c.364G>C	ENSP00000392671.1:p.Ala122Pro
ENST00000445971.1:c.*107G>C	ENSP00000404945.1:n.*107G>C
ENST00000466602.1:n.464G>C
ENST00000494263.5:n.1080G>C
NM_000784.3:c.646G>C	NP_000775.1:p.Ala216Pro
XM_017003488.2:c.226G>C	XP_016858977.1:p.Ala76Pro
NM_000784.4:c.646G>C MANE Select	NP_000775.1:p.Ala216Pro