Canonical Allele Identifier: CA2112719

Gene: CYP27A1

Linked Data

• dbSNP Id: rs747727329
• ExAC: 2:219677425 C / CT
• gnomAD v2: 2-219677425-C-CT
• MyVariant Identifiers: chr2:g.219677425_219677426insT (hg19) ; chr2:g.218812702_218812703insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812705dup , CM000664.2:g.218812705dup	GRCh38
NC_000002.11:g.219677428dup , CM000664.1:g.219677428dup	GRCh37
NC_000002.10:g.219385672dup	NCBI36
NG_007959.1:g.35957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.800dup MANE Select	ENSP00000258415.4:p.Trp268LeufsTer20
ENST00000258415.8:c.800dup	ENSP00000258415.4:p.Trp268LeufsTer20
ENST00000411688.1:c.518dup	ENSP00000392671.1:p.Trp174LeufsTer20
ENST00000445971.1:c.*261dup	ENSP00000404945.1:n.*261dup
ENST00000466602.1:n.748dup
ENST00000494263.5:n.1234dup
NM_000784.3:c.800dup	NP_000775.1:p.Trp268LeufsTer20
XM_017003488.2:c.380dup	XP_016858977.1:p.Trp128LeufsTer20
NM_000784.4:c.800dup MANE Select	NP_000775.1:p.Trp268LeufsTer20