Canonical Allele Identifier: CA2112718

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 287206
• ClinVar RCV Id: RCV000265806 ; RCV000284553 ; RCV002418120 ; RCV003967766
• dbSNP Id: rs144018609
• ExAC: 2:219677420 G / A
• gnomAD v2: 2-219677420-G-A
• gnomAD v3: 2-218812697-G-A
• gnomAD v4: 2-218812697-G-A
• MyVariant Identifiers: chr2:g.219677420G>A (hg19) ; chr2:g.218812697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812697G>A , CM000664.2:g.218812697G>A	GRCh38
NC_000002.11:g.219677420G>A , CM000664.1:g.219677420G>A	GRCh37
NC_000002.10:g.219385664G>A	NCBI36
NG_007959.1:g.35949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.792G>A MANE Select	ENSP00000258415.4:p.Val264=
ENST00000258415.8:c.792G>A	ENSP00000258415.4:p.Val264=
ENST00000411688.1:c.510G>A	ENSP00000392671.1:p.Val170=
ENST00000445971.1:c.*253G>A	ENSP00000404945.1:n.*253G>A
ENST00000466602.1:n.740G>A
ENST00000494263.5:n.1226G>A
NM_000784.3:c.792G>A	NP_000775.1:p.Val264=
XM_017003488.2:c.372G>A	XP_016858977.1:p.Val124=
NM_000784.4:c.792G>A MANE Select	NP_000775.1:p.Val264=