Canonical Allele Identifier: CA605325357

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1475101904
• gnomAD v2: 12-58159559-T-TC
• MyVariant Identifiers: chr12:g.58159559_58159560insC (hg19) ; chr12:g.57765776_57765777insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765781dup , CM000674.2:g.57765781dup	GRCh38
NC_000012.11:g.58159564dup , CM000674.1:g.58159564dup	GRCh37
NC_000012.10:g.56445831dup	NCBI36
NG_007076.1:g.6417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+230dup
ENST00000713544.1:c.387-197dup	ENSP00000518840.1:n.387-197dup
ENST00000713545.1:c.387-220dup	ENSP00000518841.1:n.387-220dup
ENST00000228606.9:c.386+230dup MANE Select	ENSP00000228606.4:n.386+230dup
ENST00000228606.8:c.386+230dup	ENSP00000228606.4:n.386+230dup
ENST00000546496.1:n.214+230dup
ENST00000546609.1:c.298+230dup
ENST00000547344.5:n.440+230dup
ENST00000552186.1:n.505+230dup
NM_000785.3:c.386+230dup	NP_000776.1:n.386+230dup
NM_000785.4:c.386+230dup MANE Select	NP_000776.1:n.386+230dup