Canonical Allele Identifier: CA480269313

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 880898
• ClinVar RCV Id: RCV001109505 ; RCV003708565
• dbSNP Id: rs1200364118
• gnomAD v2: 12-58157577-C-G
• gnomAD v4: 12-57763794-C-G
• MyVariant Identifiers: chr12:g.58157577C>G (hg19) ; chr12:g.57763794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763794C>G , CM000674.2:g.57763794C>G	GRCh38
NC_000012.11:g.58157577C>G , CM000674.1:g.58157577C>G	GRCh37
NC_000012.10:g.56443844C>G	NCBI36
NG_007076.1:g.8400G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1311G>C	ENSP00000518840.1:p.Leu437=
ENST00000713545.1:c.*235G>C	ENSP00000518841.1:n.*235G>C
ENST00000228606.9:c.1230G>C MANE Select	ENSP00000228606.4:p.Leu410=
ENST00000228606.8:c.1230G>C	ENSP00000228606.4:p.Leu410=
ENST00000547344.5:n.1369G>C
NM_000785.3:c.1230G>C	NP_000776.1:p.Leu410=
NM_000785.4:c.1230G>C MANE Select	NP_000776.1:p.Leu410=