Canonical Allele Identifier: CA431414003

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 1140080
• ClinVar RCV Id: RCV001477036
• dbSNP Id: rs1408697261
• MyVariant Identifiers: chr2:g.219647055C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782332C>T , CM000664.2:g.218782332C>T	GRCh38
NC_000002.11:g.219647055C>T , CM000664.1:g.219647055C>T	GRCh37
NC_000002.10:g.219355299C>T	NCBI36
NG_007959.1:g.5584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.150C>T MANE Select	ENSP00000258415.4:p.Val50=
ENST00000258415.8:c.150C>T	ENSP00000258415.4:p.Val50=
ENST00000445971.1:c.150C>T	ENSP00000404945.1:p.Val50=
ENST00000466602.1:n.159C>T
ENST00000494263.5:n.584C>T
NM_000784.3:c.150C>T	NP_000775.1:p.Val50=
XM_017003488.2:c.-80C>T	XP_016858977.1:n.-80C>T
NM_000784.4:c.150C>T MANE Select	NP_000775.1:p.Val50=