Canonical Allele Identifier: CA385503513

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764438-G-A
• MyVariant Identifiers: chr12:g.58158221G>A (hg19) ; chr12:g.57764438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764438G>A , CM000674.2:g.57764438G>A	GRCh38
NC_000012.11:g.58158221G>A , CM000674.1:g.58158221G>A	GRCh37
NC_000012.10:g.56444488G>A	NCBI36
NG_007076.1:g.7756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1157C>T	ENSP00000518840.1:p.Pro386Leu
ENST00000713545.1:c.*81C>T	ENSP00000518841.1:n.*81C>T
ENST00000228606.9:c.1076C>T MANE Select	ENSP00000228606.4:p.Pro359Leu
ENST00000228606.8:c.1076C>T	ENSP00000228606.4:p.Pro359Leu
ENST00000546567.5:c.371C>T	ENSP00000449472.1:p.Pro124Leu
ENST00000547344.5:n.1215C>T
NM_000785.3:c.1076C>T	NP_000776.1:p.Pro359Leu
NM_000785.4:c.1076C>T MANE Select	NP_000776.1:p.Pro359Leu