Canonical Allele Identifier: CA350592492

Gene: CYP27A1

Linked Data

• MyVariant Identifiers: chr2:g.219678881G>T (hg19) ; chr2:g.218814158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814158G>T , CM000664.2:g.218814158G>T	GRCh38
NC_000002.11:g.219678881G>T , CM000664.1:g.219678881G>T	GRCh37
NC_000002.10:g.219387125G>T	NCBI36
NG_007959.1:g.37410G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1155G>T MANE Select	ENSP00000258415.4:p.Leu385Phe
ENST00000258415.8:c.1155G>T	ENSP00000258415.4:p.Leu385Phe
ENST00000494263.5:n.1589G>T
NM_000784.3:c.1155G>T	NP_000775.1:p.Leu385Phe
XM_017003488.2:c.735G>T	XP_016858977.1:p.Leu245Phe
NM_000784.4:c.1155G>T MANE Select	NP_000775.1:p.Leu385Phe