Canonical Allele Identifier: CA385503713
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158246G>C (hg19) chr12:g.57764463G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764463G>C , CM000674.2:g.57764463G>C GRCh38
NC_000012.11:g.58158246G>C , CM000674.1:g.58158246G>C GRCh37
NC_000012.10:g.56444513G>C NCBI36
NG_007076.1:g.7731C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1132C>G ENSP00000518840.1:p.Leu378Val
ENST00000713545.1:c.*56C>G ENSP00000518841.1:n.*56C>G
ENST00000228606.9:c.1051C>G MANE Select ENSP00000228606.4:p.Leu351Val
ENST00000228606.8:c.1051C>G ENSP00000228606.4:p.Leu351Val
ENST00000546567.5:c.346C>G ENSP00000449472.1:p.Leu116Val
ENST00000547344.5:n.1190C>G
NM_000785.3:c.1051C>G NP_000776.1:p.Leu351Val
NM_000785.4:c.1051C>G MANE Select NP_000776.1:p.Leu351Val
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