Canonical Allele Identifier: CA385505324

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1457372831
• gnomAD v2: 12-58158892-G-A
• MyVariant Identifiers: chr12:g.58158892G>A (hg19) ; chr12:g.57765109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765109G>A , CM000674.2:g.57765109G>A	GRCh38
NC_000012.11:g.58158892G>A , CM000674.1:g.58158892G>A	GRCh37
NC_000012.10:g.56445159G>A	NCBI36
NG_007076.1:g.7085C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.604C>T
ENST00000713544.1:c.773C>T	ENSP00000518840.1:p.Ser258Phe
ENST00000713545.1:c.750C>T	ENSP00000518841.1:p.Val250=
ENST00000228606.9:c.692C>T MANE Select	ENSP00000228606.4:p.Ser231Phe
ENST00000228606.8:c.692C>T	ENSP00000228606.4:p.Ser231Phe
ENST00000546567.5:c.-14C>T	ENSP00000449472.1:n.-14C>T
ENST00000546609.1:c.604C>T
ENST00000547344.5:n.831C>T
ENST00000547451.1:n.492C>T
NM_000785.3:c.692C>T	NP_000776.1:p.Ser231Phe
NM_000785.4:c.692C>T MANE Select	NP_000776.1:p.Ser231Phe