Canonical Allele Identifier: CA385505259

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1349447802
• gnomAD v3: 12-57765078-C-T
• gnomAD v4: 12-57765078-C-T
• MyVariant Identifiers: chr12:g.58158861C>T (hg19) ; chr12:g.57765078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765078C>T , CM000674.2:g.57765078C>T	GRCh38
NC_000012.11:g.58158861C>T , CM000674.1:g.58158861C>T	GRCh37
NC_000012.10:g.56445128C>T	NCBI36
NG_007076.1:g.7116G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.635G>A
ENST00000713544.1:c.804G>A	ENSP00000518840.1:p.Trp268Ter
ENST00000713545.1:c.781G>A	ENSP00000518841.1:p.Ala261Thr
ENST00000228606.9:c.723G>A MANE Select	ENSP00000228606.4:p.Trp241Ter
ENST00000228606.8:c.723G>A	ENSP00000228606.4:p.Trp241Ter
ENST00000546567.5:c.18G>A	ENSP00000449472.1:p.Trp6Ter
ENST00000546609.1:c.635G>A
ENST00000547344.5:n.862G>A
ENST00000547451.1:n.523G>A
NM_000785.3:c.723G>A	NP_000776.1:p.Trp241Ter
NM_000785.4:c.723G>A MANE Select	NP_000776.1:p.Trp241Ter