Canonical Allele Identifier: CA385505382
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158921G>C (hg19) chr12:g.57765138G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765138G>C , CM000674.2:g.57765138G>C GRCh38
NC_000012.11:g.58158921G>C , CM000674.1:g.58158921G>C GRCh37
NC_000012.10:g.56445188G>C NCBI36
NG_007076.1:g.7056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.575C>G
ENST00000713544.1:c.744C>G ENSP00000518840.1:p.Phe248Leu
ENST00000713545.1:c.721C>G ENSP00000518841.1:p.His241Asp
ENST00000228606.9:c.663C>G MANE Select ENSP00000228606.4:p.Phe221Leu
ENST00000228606.8:c.663C>G ENSP00000228606.4:p.Phe221Leu
ENST00000546567.5:c.-43C>G ENSP00000449472.1:n.-43C>G
ENST00000546609.1:c.575C>G
ENST00000547344.5:n.802C>G
ENST00000547451.1:n.463C>G
NM_000785.3:c.663C>G NP_000776.1:p.Phe221Leu
NM_000785.4:c.663C>G MANE Select NP_000776.1:p.Phe221Leu
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