Canonical Allele Identifier: CA385505333

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1382758029
• gnomAD v2: 12-58158896-C-T
• gnomAD v4: 12-57765113-C-T
• MyVariant Identifiers: chr12:g.58158896C>T (hg19) ; chr12:g.57765113C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.600G>A
ENST00000713544.1:c.769G>A	ENSP00000518840.1:p.Val257Met
ENST00000713545.1:c.746G>A	ENSP00000518841.1:p.Cys249Tyr
ENST00000228606.9:c.688G>A MANE Select	ENSP00000228606.4:p.Val230Met
ENST00000228606.8:c.688G>A	ENSP00000228606.4:p.Val230Met
ENST00000546567.5:c.-18G>A	ENSP00000449472.1:n.-18G>A
ENST00000546609.1:c.600G>A
ENST00000547344.5:n.827G>A
ENST00000547451.1:n.488G>A
NM_000785.3:c.688G>A	NP_000776.1:p.Val230Met
NM_000785.4:c.688G>A MANE Select	NP_000776.1:p.Val230Met