Canonical Allele Identifier: CA385501100
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157518G>A (hg19) chr12:g.57763735G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763735G>A , CM000674.2:g.57763735G>A GRCh38
NC_000012.11:g.58157518G>A , CM000674.1:g.58157518G>A GRCh37
NC_000012.10:g.56443785G>A NCBI36
NG_007076.1:g.8459C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1370C>T ENSP00000518840.1:p.Pro457Leu
ENST00000713545.1:c.*294C>T ENSP00000518841.1:n.*294C>T
ENST00000228606.9:c.1289C>T MANE Select ENSP00000228606.4:p.Pro430Leu
ENST00000228606.8:c.1289C>T ENSP00000228606.4:p.Pro430Leu
ENST00000547344.5:n.1428C>T
NM_000785.3:c.1289C>T NP_000776.1:p.Pro430Leu
NM_000785.4:c.1289C>T MANE Select NP_000776.1:p.Pro430Leu
Search 100 bp 5'
Search 100 bp 3'