Canonical Allele Identifier: CA385505336

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765115-A-C
• MyVariant Identifiers: chr12:g.58158898A>C (hg19) ; chr12:g.57765115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765115A>C , CM000674.2:g.57765115A>C	GRCh38
NC_000012.11:g.58158898A>C , CM000674.1:g.58158898A>C	GRCh37
NC_000012.10:g.56445165A>C	NCBI36
NG_007076.1:g.7079T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.598T>G
ENST00000713544.1:c.767T>G	ENSP00000518840.1:p.Phe256Cys
ENST00000713545.1:c.744T>G	ENSP00000518841.1:p.Val248=
ENST00000228606.9:c.686T>G MANE Select	ENSP00000228606.4:p.Phe229Cys
ENST00000228606.8:c.686T>G	ENSP00000228606.4:p.Phe229Cys
ENST00000546567.5:c.-20T>G	ENSP00000449472.1:n.-20T>G
ENST00000546609.1:c.598T>G
ENST00000547344.5:n.825T>G
ENST00000547451.1:n.486T>G
NM_000785.3:c.686T>G	NP_000776.1:p.Phe229Cys
NM_000785.4:c.686T>G MANE Select	NP_000776.1:p.Phe229Cys