Canonical Allele Identifier: CA385502674
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157928C>G (hg19) chr12:g.57764145C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764145C>G , CM000674.2:g.57764145C>G GRCh38
NC_000012.11:g.58157928C>G , CM000674.1:g.58157928C>G GRCh37
NC_000012.10:g.56444195C>G NCBI36
NG_007076.1:g.8049G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1249G>C ENSP00000518840.1:p.Val417Leu
ENST00000713545.1:c.*173G>C ENSP00000518841.1:n.*173G>C
ENST00000228606.9:c.1168G>C MANE Select ENSP00000228606.4:p.Val390Leu
ENST00000228606.8:c.1168G>C ENSP00000228606.4:p.Val390Leu
ENST00000546567.5:c.463G>C ENSP00000449472.1:p.Val155Leu
ENST00000547344.5:n.1307G>C
NM_000785.3:c.1168G>C NP_000776.1:p.Val390Leu
NM_000785.4:c.1168G>C MANE Select NP_000776.1:p.Val390Leu
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