Canonical Allele Identifier: CA6658209

Gene: CYP27B1

Linked Data

• dbSNP Id: rs751587630
• ExAC: 12:58158112 C / T
• gnomAD v2: 12-58158112-C-T
• gnomAD v4: 12-57764329-C-T
• MyVariant Identifiers: chr12:g.58158112C>T (hg19) ; chr12:g.57764329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764329C>T , CM000674.2:g.57764329C>T	GRCh38
NC_000012.11:g.58158112C>T , CM000674.1:g.58158112C>T	GRCh37
NC_000012.10:g.56444379C>T	NCBI36
NG_007076.1:g.7865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+49G>A	ENSP00000518840.1:n.1217+49G>A
ENST00000713545.1:c.*141+49G>A	ENSP00000518841.1:n.*141+49G>A
ENST00000228606.9:c.1136+49G>A MANE Select	ENSP00000228606.4:n.1136+49G>A
ENST00000228606.8:c.1136+49G>A	ENSP00000228606.4:n.1136+49G>A
ENST00000546567.5:c.431+49G>A	ENSP00000449472.1:n.431+49G>A
ENST00000547344.5:n.1275+49G>A
NM_000785.3:c.1136+49G>A	NP_000776.1:n.1136+49G>A
NM_000785.4:c.1136+49G>A MANE Select	NP_000776.1:n.1136+49G>A