Canonical Allele Identifier: CA385501073

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955336827
• gnomAD v4: 12-57763725-C-T
• MyVariant Identifiers: chr12:g.58157508C>T (hg19) ; chr12:g.57763725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763725C>T , CM000674.2:g.57763725C>T	GRCh38
NC_000012.11:g.58157508C>T , CM000674.1:g.58157508C>T	GRCh37
NC_000012.10:g.56443775C>T	NCBI36
NG_007076.1:g.8469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1380G>A	ENSP00000518840.1:p.Trp460Ter
ENST00000713545.1:c.*304G>A	ENSP00000518841.1:n.*304G>A
ENST00000228606.9:c.1299G>A MANE Select	ENSP00000228606.4:p.Trp433Ter
ENST00000228606.8:c.1299G>A	ENSP00000228606.4:p.Trp433Ter
ENST00000547344.5:n.1438G>A
NM_000785.3:c.1299G>A	NP_000776.1:p.Trp433Ter
NM_000785.4:c.1299G>A MANE Select	NP_000776.1:p.Trp433Ter