Canonical Allele Identifier: CA385506997

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765458G>A , CM000674.2:g.57765458G>A	GRCh38
NC_000012.11:g.58159241G>A , CM000674.1:g.58159241G>A	GRCh37
NC_000012.10:g.56445508G>A	NCBI36
NG_007076.1:g.6736C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.428C>T MANE Select	NP_000776.1:p.Pro143Leu
ENST00000228606.9:c.428C>T MANE Select	ENSP00000228606.4:p.Pro143Leu
NM_000785.3:c.428C>T	NP_000776.1:p.Pro143Leu
ENST00000228606.8:c.428C>T	ENSP00000228606.4:p.Pro143Leu
ENST00000546567.5:c.-278C>T	ENSP00000449472.1:n.-278C>T
ENST00000546609.1:c.340C>T
ENST00000546609.2:n.340C>T
ENST00000547344.5:n.482C>T
ENST00000547451.1:n.228C>T
ENST00000552186.1:n.547C>T
ENST00000713544.1:c.509C>T	ENSP00000518840.1:p.Pro170Leu
ENST00000713545.1:c.486C>T	ENSP00000518841.1:p.Pro162=