Canonical Allele Identifier: CA385503434
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158207G>T (hg19) chr12:g.57764424G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764424G>T , CM000674.2:g.57764424G>T GRCh38
NC_000012.11:g.58158207G>T , CM000674.1:g.58158207G>T GRCh37
NC_000012.10:g.56444474G>T NCBI36
NG_007076.1:g.7770C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1171C>A ENSP00000518840.1:p.Leu391Met
ENST00000713545.1:c.*95C>A ENSP00000518841.1:n.*95C>A
ENST00000228606.9:c.1090C>A MANE Select ENSP00000228606.4:p.Leu364Met
ENST00000228606.8:c.1090C>A ENSP00000228606.4:p.Leu364Met
ENST00000546567.5:c.385C>A ENSP00000449472.1:p.Leu129Met
ENST00000547344.5:n.1229C>A
NM_000785.3:c.1090C>A NP_000776.1:p.Leu364Met
NM_000785.4:c.1090C>A MANE Select NP_000776.1:p.Leu364Met
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