Canonical Allele Identifier: CA431414252

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943732593
• gnomAD v3: 2-218812592-G-T
• gnomAD v4: 2-218812592-G-T
• MyVariant Identifiers: chr2:g.219677315G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812592G>T , CM000664.2:g.218812592G>T	GRCh38
NC_000002.11:g.219677315G>T , CM000664.1:g.219677315G>T	GRCh37
NC_000002.10:g.219385559G>T	NCBI36
NG_007959.1:g.35844G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.687G>T MANE Select	ENSP00000258415.4:p.Leu229=
ENST00000258415.8:c.687G>T	ENSP00000258415.4:p.Leu229=
ENST00000411688.1:c.405G>T	ENSP00000392671.1:p.Leu135=
ENST00000445971.1:c.*148G>T	ENSP00000404945.1:n.*148G>T
ENST00000466602.1:n.635G>T
ENST00000494263.5:n.1121G>T
NM_000784.3:c.687G>T	NP_000775.1:p.Leu229=
XM_017003488.2:c.267G>T	XP_016858977.1:p.Leu89=
NM_000784.4:c.687G>T MANE Select	NP_000775.1:p.Leu229=