Canonical Allele Identifier: CA431234132

Gene: CYP27A1

Linked Data

• MyVariant Identifiers: chr2:g.219678758G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814035G>C , CM000664.2:g.218814035G>C	GRCh38
NC_000002.11:g.219678758G>C , CM000664.1:g.219678758G>C	GRCh37
NC_000002.10:g.219387002G>C	NCBI36
NG_007959.1:g.37287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1032G>C MANE Select	ENSP00000258415.4:p.Leu344=
ENST00000258415.8:c.1032G>C	ENSP00000258415.4:p.Leu344=
ENST00000445971.1:c.*493G>C	ENSP00000404945.1:n.*493G>C
ENST00000466602.1:n.1154G>C
ENST00000494263.5:n.1466G>C
NM_000784.3:c.1032G>C	NP_000775.1:p.Leu344=
XM_017003488.2:c.612G>C	XP_016858977.1:p.Leu204=
NM_000784.4:c.1032G>C MANE Select	NP_000775.1:p.Leu344=