Canonical Allele Identifier: CA6658150
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 279798
ClinVar RCV Id: RCV000258015 RCV000271425 RCV001028038 RCV001267045 RCV001808725
dbSNP Id: rs780950819
ExAC: 12:58157481 T / TGGGTGGG
gnomAD v2: 12-58157481-T-TGGGTGGG
gnomAD v3: 12-57763698-T-TGGGTGGG
gnomAD v4: 12-57763698-T-TGGGTGGG
MyVariant Identifiers: chr12:g.58157482_58157488dupGGGTGGG (hg19) chr12:g.58157481_58157482insGGGTGGG (hg19) chr12:g.57763699_57763705dupGGGTGGG (hg38) chr12:g.57763698_57763699insGGGTGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763706_57763712dup , CM000674.2:g.57763706_57763712dup GRCh38
NC_000012.11:g.58157489_58157495dup , CM000674.1:g.58157489_58157495dup GRCh37
NC_000012.10:g.56443756_56443762dup NCBI36
NG_007076.1:g.8489_8495dup

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1400_1406dup ENSP00000518840.1:p.Phe470ProfsTer24
ENST00000713545.1:c.*324_*330dup ENSP00000518841.1:n.*324_*330dup
ENST00000228606.9:c.1319_1325dup MANE Select ENSP00000228606.4:p.Phe443ProfsTer24
ENST00000228606.8:c.1319_1325dup ENSP00000228606.4:p.Phe443ProfsTer24
ENST00000547344.5:n.1458_1464dup
NM_000785.3:c.1319_1325dup NP_000776.1:p.Phe443ProfsTer24
NM_000785.4:c.1319_1325dup MANE Select NP_000776.1:p.Phe443ProfsTer24
Search 100 bp 5'
Search 100 bp 3'