Canonical Allele Identifier: CA345260

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 65929
• ClinVar RCV Id: RCV000056176 ; RCV001267947 ; RCV003894910
• dbSNP Id: rs587778818
• ExAC: 2:219674454 G / A
• gnomAD v2: 2-219674454-G-A
• gnomAD v3: 2-218809731-G-A
• gnomAD v4: 2-218809731-G-A
• COSMIC: COSM4382597
• MyVariant Identifiers: chr2:g.219674454G>A (hg19) ; chr2:g.218809731G>A (hg38)
• PubMed: PMID:20301583 ; PMID:20558929

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218809731G>A , CM000664.2:g.218809731G>A	GRCh38
NC_000002.11:g.219674454G>A , CM000664.1:g.219674454G>A	GRCh37
NC_000002.10:g.219382698G>A	NCBI36
NG_007959.1:g.32983G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.410G>A MANE Select	ENSP00000258415.4:p.Arg137Gln
ENST00000258415.8:c.410G>A	ENSP00000258415.4:p.Arg137Gln
ENST00000411688.1:c.128G>A	ENSP00000392671.1:p.Arg43Gln
ENST00000445971.1:c.256-2491G>A	ENSP00000404945.1:n.256-2491G>A
ENST00000466602.1:n.265-2491G>A
ENST00000494263.5:n.844G>A
NM_000784.3:c.410G>A	NP_000775.1:p.Arg137Gln
XM_017003488.2:c.27-2491G>A	XP_016858977.1:n.27-2491G>A
NM_000784.4:c.410G>A MANE Select	NP_000775.1:p.Arg137Gln