Canonical Allele Identifier: CA385502739

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 1339455
• ClinVar RCV Id: RCV001843330
• dbSNP Id: rs2140396410
• MyVariant Identifiers: chr12:g.58157936T>G (hg19) ; chr12:g.57764153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764153T>G , CM000674.2:g.57764153T>G	GRCh38
NC_000012.11:g.58157936T>G , CM000674.1:g.58157936T>G	GRCh37
NC_000012.10:g.56444203T>G	NCBI36
NG_007076.1:g.8041A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1241A>C	ENSP00000518840.1:p.Asn414Thr
ENST00000713545.1:c.*165A>C	ENSP00000518841.1:n.*165A>C
ENST00000228606.9:c.1160A>C MANE Select	ENSP00000228606.4:p.Asn387Thr
ENST00000228606.8:c.1160A>C	ENSP00000228606.4:p.Asn387Thr
ENST00000546567.5:c.455A>C	ENSP00000449472.1:p.Asn152Thr
ENST00000547344.5:n.1299A>C
NM_000785.3:c.1160A>C	NP_000776.1:p.Asn387Thr
NM_000785.4:c.1160A>C MANE Select	NP_000776.1:p.Asn387Thr