Canonical Allele Identifier: CA385504036

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1184786216
• gnomAD v4: 12-57764526-G-C
• MyVariant Identifiers: chr12:g.58158309G>C (hg19) ; chr12:g.57764526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764526G>C , CM000674.2:g.57764526G>C	GRCh38
NC_000012.11:g.58158309G>C , CM000674.1:g.58158309G>C	GRCh37
NC_000012.10:g.56444576G>C	NCBI36
NG_007076.1:g.7668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1069C>G	ENSP00000518840.1:p.Leu357Val
ENST00000713545.1:c.1046C>G	ENSP00000518841.1:p.Ser349Cys
ENST00000228606.9:c.988C>G MANE Select	ENSP00000228606.4:p.Leu330Val
ENST00000228606.8:c.988C>G	ENSP00000228606.4:p.Leu330Val
ENST00000546567.5:c.283C>G	ENSP00000449472.1:p.Leu95Val
ENST00000547344.5:n.1127C>G
NM_000785.3:c.988C>G	NP_000776.1:p.Leu330Val
NM_000785.4:c.988C>G MANE Select	NP_000776.1:p.Leu330Val