Canonical Allele Identifier: CA385505331

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765113-C-A
• MyVariant Identifiers: chr12:g.58158896C>A (hg19) ; chr12:g.57765113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765113C>A , CM000674.2:g.57765113C>A	GRCh38
NC_000012.11:g.58158896C>A , CM000674.1:g.58158896C>A	GRCh37
NC_000012.10:g.56445163C>A	NCBI36
NG_007076.1:g.7081G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.600G>T
ENST00000713544.1:c.769G>T	ENSP00000518840.1:p.Val257Leu
ENST00000713545.1:c.746G>T	ENSP00000518841.1:p.Cys249Phe
ENST00000228606.9:c.688G>T MANE Select	ENSP00000228606.4:p.Val230Leu
ENST00000228606.8:c.688G>T	ENSP00000228606.4:p.Val230Leu
ENST00000546567.5:c.-18G>T	ENSP00000449472.1:n.-18G>T
ENST00000546609.1:c.600G>T
ENST00000547344.5:n.827G>T
ENST00000547451.1:n.488G>T
NM_000785.3:c.688G>T	NP_000776.1:p.Val230Leu
NM_000785.4:c.688G>T MANE Select	NP_000776.1:p.Val230Leu