Canonical Allele Identifier: CA385505350

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765121-G-A
• MyVariant Identifiers: chr12:g.58158904G>A (hg19) ; chr12:g.57765121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765121G>A , CM000674.2:g.57765121G>A	GRCh38
NC_000012.11:g.58158904G>A , CM000674.1:g.58158904G>A	GRCh37
NC_000012.10:g.56445171G>A	NCBI36
NG_007076.1:g.7073C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.592C>T
ENST00000713544.1:c.761C>T	ENSP00000518840.1:p.Ser254Leu
ENST00000713545.1:c.738C>T	ENSP00000518841.1:p.Leu246=
ENST00000228606.9:c.680C>T MANE Select	ENSP00000228606.4:p.Ser227Leu
ENST00000228606.8:c.680C>T	ENSP00000228606.4:p.Ser227Leu
ENST00000546567.5:c.-26C>T	ENSP00000449472.1:n.-26C>T
ENST00000546609.1:c.592C>T
ENST00000547344.5:n.819C>T
ENST00000547451.1:n.480C>T
NM_000785.3:c.680C>T	NP_000776.1:p.Ser227Leu
NM_000785.4:c.680C>T MANE Select	NP_000776.1:p.Ser227Leu