Canonical Allele Identifier: CA385505592

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158977G>A (hg19) ; chr12:g.57765194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765194G>A , CM000674.2:g.57765194G>A	GRCh38
NC_000012.11:g.58158977G>A , CM000674.1:g.58158977G>A	GRCh37
NC_000012.10:g.56445244G>A	NCBI36
NG_007076.1:g.7000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.519C>T
ENST00000713544.1:c.688C>T	ENSP00000518840.1:p.Leu230Phe
ENST00000713545.1:c.665C>T	ENSP00000518841.1:p.Ala222Val
ENST00000228606.9:c.607C>T MANE Select	ENSP00000228606.4:p.Leu203Phe
ENST00000228606.8:c.607C>T	ENSP00000228606.4:p.Leu203Phe
ENST00000546567.5:c.-99C>T	ENSP00000449472.1:n.-99C>T
ENST00000546609.1:c.519C>T
ENST00000547344.5:n.746C>T
ENST00000547451.1:n.407C>T
NM_000785.3:c.607C>T	NP_000776.1:p.Leu203Phe
NM_000785.4:c.607C>T MANE Select	NP_000776.1:p.Leu203Phe