Canonical Allele Identifier: CA690329707

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1232261221
• MyVariant Identifiers: chr12:g.58158095T>C (hg19) ; chr12:g.57764312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764312T>C , CM000674.2:g.57764312T>C	GRCh38
NC_000012.11:g.58158095T>C , CM000674.1:g.58158095T>C	GRCh37
NC_000012.10:g.56444362T>C	NCBI36
NG_007076.1:g.7882A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1217+66A>G	ENSP00000518840.1:n.1217+66A>G
ENST00000713545.1:c.*141+66A>G	ENSP00000518841.1:n.*141+66A>G
ENST00000228606.9:c.1136+66A>G MANE Select	ENSP00000228606.4:n.1136+66A>G
ENST00000228606.8:c.1136+66A>G	ENSP00000228606.4:n.1136+66A>G
ENST00000546567.5:c.431+66A>G	ENSP00000449472.1:n.431+66A>G
ENST00000547344.5:n.1275+66A>G
NM_000785.3:c.1136+66A>G	NP_000776.1:n.1136+66A>G
NM_000785.4:c.1136+66A>G MANE Select	NP_000776.1:n.1136+66A>G