Canonical Allele Identifier: CA2112751

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 334372
• ClinVar RCV Id: RCV000353347 ; RCV001699326 ; RCV002374576
• dbSNP Id: rs190012697
• ExAC: 2:219677673 G / A
• gnomAD v2: 2-219677673-G-A
• gnomAD v3: 2-218812950-G-A
• gnomAD v4: 2-218812950-G-A
• MyVariant Identifiers: chr2:g.219677673G>A (hg19) ; chr2:g.218812950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812950G>A , CM000664.2:g.218812950G>A	GRCh38
NC_000002.11:g.219677673G>A , CM000664.1:g.219677673G>A	GRCh37
NC_000002.10:g.219385917G>A	NCBI36
NG_007959.1:g.36202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.871G>A MANE Select	ENSP00000258415.4:p.Glu291Lys
ENST00000258415.8:c.871G>A	ENSP00000258415.4:p.Glu291Lys
ENST00000411688.1:c.589G>A	ENSP00000392671.1:p.Glu197Lys
ENST00000445971.1:c.*332G>A	ENSP00000404945.1:n.*332G>A
ENST00000466602.1:n.993G>A
ENST00000494263.5:n.1305G>A
NM_000784.3:c.871G>A	NP_000775.1:p.Glu291Lys
XM_017003488.2:c.451G>A	XP_016858977.1:p.Glu151Lys
NM_000784.4:c.871G>A MANE Select	NP_000775.1:p.Glu291Lys