Canonical Allele Identifier: CA385509612

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766194-G-A
• MyVariant Identifiers: chr12:g.58159977G>A (hg19) ; chr12:g.57766194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766194G>A , CM000674.2:g.57766194G>A	GRCh38
NC_000012.11:g.58159977G>A , CM000674.1:g.58159977G>A	GRCh37
NC_000012.10:g.56446244G>A	NCBI36
NG_007076.1:g.6000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.111C>T
ENST00000713544.1:c.199C>T	ENSP00000518840.1:p.Gln67Ter
ENST00000713545.1:c.199C>T	ENSP00000518841.1:p.Gln67Ter
ENST00000228606.9:c.199C>T MANE Select	ENSP00000228606.4:p.Gln67Ter
ENST00000228606.8:c.199C>T	ENSP00000228606.4:p.Gln67Ter
ENST00000546496.1:n.27C>T
ENST00000546609.1:c.111C>T
ENST00000547344.5:n.253C>T
ENST00000552186.1:n.318C>T
NM_000785.3:c.199C>T	NP_000776.1:p.Gln67Ter
NM_000785.4:c.199C>T MANE Select	NP_000776.1:p.Gln67Ter