Canonical Allele Identifier: CA385500940

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157477C>A (hg19) ; chr12:g.57763694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763694C>A , CM000674.2:g.57763694C>A	GRCh38
NC_000012.11:g.58157477C>A , CM000674.1:g.58157477C>A	GRCh37
NC_000012.10:g.56443744C>A	NCBI36
NG_007076.1:g.8500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1411G>T	ENSP00000518840.1:p.Ala471Ser
ENST00000713545.1:c.*335G>T	ENSP00000518841.1:n.*335G>T
ENST00000228606.9:c.1330G>T MANE Select	ENSP00000228606.4:p.Ala444Ser
ENST00000228606.8:c.1330G>T	ENSP00000228606.4:p.Ala444Ser
ENST00000547344.5:n.1469G>T
NM_000785.3:c.1330G>T	NP_000776.1:p.Ala444Ser
NM_000785.4:c.1330G>T MANE Select	NP_000776.1:p.Ala444Ser