Canonical Allele Identifier: CA350587921

Gene: CYP27A1

Linked Data

• MyVariant Identifiers: chr2:g.219677647G>T (hg19) ; chr2:g.218812924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812924G>T , CM000664.2:g.218812924G>T	GRCh38
NC_000002.11:g.219677647G>T , CM000664.1:g.219677647G>T	GRCh37
NC_000002.10:g.219385891G>T	NCBI36
NG_007959.1:g.36176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.845G>T MANE Select	ENSP00000258415.4:p.Gly282Val
ENST00000258415.8:c.845G>T	ENSP00000258415.4:p.Gly282Val
ENST00000411688.1:c.563G>T	ENSP00000392671.1:p.Gly188Val
ENST00000445971.1:c.*306G>T	ENSP00000404945.1:n.*306G>T
ENST00000466602.1:n.967G>T
ENST00000494263.5:n.1279G>T
NM_000784.3:c.845G>T	NP_000775.1:p.Gly282Val
XM_017003488.2:c.425G>T	XP_016858977.1:p.Gly142Val
NM_000784.4:c.845G>T MANE Select	NP_000775.1:p.Gly282Val