Canonical Allele Identifier: CA2112625

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 498357
• ClinVar RCV Id: RCV000594613 ; RCV000765608 ; RCV003420031 ; RCV004024736
• dbSNP Id: rs148417330
• ExAC: 2:219676989 G / C
• gnomAD v2: 2-219676989-G-C
• gnomAD v3: 2-218812266-G-C
• gnomAD v4: 2-218812266-G-C
• MyVariant Identifiers: chr2:g.219676989G>C (hg19) ; chr2:g.218812266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812266G>C , CM000664.2:g.218812266G>C	GRCh38
NC_000002.11:g.219676989G>C , CM000664.1:g.219676989G>C	GRCh37
NC_000002.10:g.219385233G>C	NCBI36
NG_007959.1:g.35518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.491G>C MANE Select	ENSP00000258415.4:p.Arg164Pro
ENST00000258415.8:c.491G>C	ENSP00000258415.4:p.Arg164Pro
ENST00000411688.1:c.209G>C	ENSP00000392671.1:p.Arg70Pro
ENST00000445971.1:c.300G>C	ENSP00000404945.1:p.Ala100=
ENST00000466602.1:n.309G>C
ENST00000494263.5:n.925G>C
NM_000784.3:c.491G>C	NP_000775.1:p.Arg164Pro
XM_017003488.2:c.71G>C	XP_016858977.1:p.Arg24Pro
NM_000784.4:c.491G>C MANE Select	NP_000775.1:p.Arg164Pro