Canonical Allele Identifier: CA480401599

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1441118032
• gnomAD v3: 12-57764404-C-A
• gnomAD v4: 12-57764404-C-A
• MyVariant Identifiers: chr12:g.58158187C>A (hg19) ; chr12:g.57764404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764404C>A , CM000674.2:g.57764404C>A	GRCh38
NC_000012.11:g.58158187C>A , CM000674.1:g.58158187C>A	GRCh37
NC_000012.10:g.56444454C>A	NCBI36
NG_007076.1:g.7790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1191G>T	ENSP00000518840.1:p.Leu397=
ENST00000713545.1:c.*115G>T	ENSP00000518841.1:n.*115G>T
ENST00000228606.9:c.1110G>T MANE Select	ENSP00000228606.4:p.Leu370=
ENST00000228606.8:c.1110G>T	ENSP00000228606.4:p.Leu370=
ENST00000546567.5:c.405G>T	ENSP00000449472.1:p.Leu135=
ENST00000547344.5:n.1249G>T
NM_000785.3:c.1110G>T	NP_000776.1:p.Leu370=
NM_000785.4:c.1110G>T MANE Select	NP_000776.1:p.Leu370=