Canonical Allele Identifier: CA2112716

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 334370
• ClinVar RCV Id: RCV000358090 ; RCV000728807 ; RCV001700067 ; RCV002418198
• dbSNP Id: rs143600636
• ExAC: 2:219677417 C / T
• gnomAD v2: 2-219677417-C-T
• gnomAD v3: 2-218812694-C-T
• gnomAD v4: 2-218812694-C-T
• COSMIC: COSM1649759
• MyVariant Identifiers: chr2:g.219677417C>T (hg19) ; chr2:g.218812694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812694C>T , CM000664.2:g.218812694C>T	GRCh38
NC_000002.11:g.219677417C>T , CM000664.1:g.219677417C>T	GRCh37
NC_000002.10:g.219385661C>T	NCBI36
NG_007959.1:g.35946C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.789C>T MANE Select	ENSP00000258415.4:p.Pro263=
ENST00000258415.8:c.789C>T	ENSP00000258415.4:p.Pro263=
ENST00000411688.1:c.507C>T	ENSP00000392671.1:p.Pro169=
ENST00000445971.1:c.*250C>T	ENSP00000404945.1:n.*250C>T
ENST00000466602.1:n.737C>T
ENST00000494263.5:n.1223C>T
NM_000784.3:c.789C>T	NP_000775.1:p.Pro263=
XM_017003488.2:c.369C>T	XP_016858977.1:p.Pro123=
NM_000784.4:c.789C>T MANE Select	NP_000775.1:p.Pro263=