Canonical Allele Identifier: CA237814943

Gene: CYP27B1

Linked Data

• dbSNP Id: rs952793854
• gnomAD v3: 12-57765199-AC-A
• gnomAD v4: 12-57765199-AC-A
• MyVariant Identifiers: chr12:g.58158983del (hg19) ; chr12:g.57765200del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765201del , CM000674.2:g.57765201del	GRCh38
NC_000012.11:g.58158984del , CM000674.1:g.58158984del	GRCh37
NC_000012.10:g.56445251del	NCBI36
NG_007076.1:g.6994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.513del
ENST00000713544.1:c.682del	ENSP00000518840.1:p.Val228PhefsTer?
ENST00000713545.1:c.659del	ENSP00000518841.1:p.Gly220ValfsTer?
ENST00000228606.9:c.601del MANE Select	ENSP00000228606.4:p.Val201PhefsTer?
ENST00000228606.8:c.601del	ENSP00000228606.4:p.Val201PhefsTer?
ENST00000546567.5:c.-105del	ENSP00000449472.1:n.-105del
ENST00000546609.1:c.513del
ENST00000547344.5:n.740del
ENST00000547451.1:n.401del
NM_000785.3:c.601del	NP_000776.1:p.Val201PhefsTer?
NM_000785.4:c.601del MANE Select	NP_000776.1:p.Val201PhefsTer?