Canonical Allele Identifier: CA115127
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1661
ClinVar RCV Id: RCV000001728
dbSNP Id: rs28934607

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764169G>A , CM000674.2:g.57764169G>A GRCh38
NC_000012.11:g.58157952G>A , CM000674.1:g.58157952G>A GRCh37
NC_000012.10:g.56444219G>A NCBI36
NG_007076.1:g.8025C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228606.9:c.1144C>T MANE Select ENSP00000228606.4:p.Pro382Ser
ENST00000228606.8:c.1144C>T ENSP00000228606.4:p.Pro382Ser
ENST00000546567.5:c.439C>T ENSP00000449472.1:p.Pro147Ser
ENST00000547344.5:n.1283C>T
NM_000785.3:c.1144C>T NP_000776.1:p.Pro382Ser
NM_000785.4:c.1144C>T MANE Select NP_000776.1:p.Pro382Ser