Canonical Allele Identifier: CA2112538

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 287315
• ClinVar RCV Id: RCV000392907 ; RCV000397130 ; RCV003165751
• dbSNP Id: rs370498798
• ExAC: 2:219647146 C / A
• gnomAD v2: 2-219647146-C-A
• gnomAD v3: 2-218782423-C-A
• gnomAD v4: 2-218782423-C-A
• MyVariant Identifiers: chr2:g.219647146C>A (hg19) ; chr2:g.218782423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782423C>A , CM000664.2:g.218782423C>A	GRCh38
NC_000002.11:g.219647146C>A , CM000664.1:g.219647146C>A	GRCh37
NC_000002.10:g.219355390C>A	NCBI36
NG_007959.1:g.5675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.241C>A MANE Select	ENSP00000258415.4:p.Leu81Met
ENST00000258415.8:c.241C>A	ENSP00000258415.4:p.Leu81Met
ENST00000445971.1:c.241C>A	ENSP00000404945.1:p.Leu81Met
ENST00000466602.1:n.250C>A
ENST00000494263.5:n.675C>A
NM_000784.3:c.241C>A	NP_000775.1:p.Leu81Met
XM_017003488.2:c.12C>A	XP_016858977.1:p.Asn4Lys
NM_000784.4:c.241C>A MANE Select	NP_000775.1:p.Leu81Met