Canonical Allele Identifier: CA2619516165

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764624-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764628dup , CM000674.2:g.57764628dup	GRCh38
NC_000012.11:g.58158411dup , CM000674.1:g.58158411dup	GRCh37
NC_000012.10:g.56444678dup	NCBI36
NG_007076.1:g.7569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-75dup	ENSP00000518840.1:n.1045-75dup
ENST00000713545.1:c.1022-75dup	ENSP00000518841.1:n.1022-75dup
ENST00000228606.9:c.964-75dup MANE Select	ENSP00000228606.4:n.964-75dup
ENST00000228606.8:c.964-75dup	ENSP00000228606.4:n.964-75dup
ENST00000546567.5:c.259-75dup	ENSP00000449472.1:n.259-75dup
ENST00000547344.5:n.1103-75dup
ENST00000547451.1:n.892dup
NM_000785.3:c.964-75dup	NP_000776.1:n.964-75dup
NM_000785.4:c.964-75dup MANE Select	NP_000776.1:n.964-75dup