Canonical Allele Identifier: CA2112725
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1566104
ClinVar RCV Id: RCV002207251
dbSNP Id: rs532134925
ExAC: 2:219677441 C / T
gnomAD v2: 2-219677441-C-T
gnomAD v4: 2-218812718-C-T
MyVariant Identifiers: chr2:g.219677441C>T (hg19) chr2:g.218812718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812718C>T , CM000664.2:g.218812718C>T GRCh38
NC_000002.11:g.219677441C>T , CM000664.1:g.219677441C>T GRCh37
NC_000002.10:g.219385685C>T NCBI36
NG_007959.1:g.35970C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.813C>T MANE Select ENSP00000258415.4:p.Tyr271=
ENST00000258415.8:c.813C>T ENSP00000258415.4:p.Tyr271=
ENST00000411688.1:c.531C>T ENSP00000392671.1:p.Tyr177=
ENST00000445971.1:c.*274C>T ENSP00000404945.1:n.*274C>T
ENST00000466602.1:n.761C>T
ENST00000494263.5:n.1247C>T
NM_000784.3:c.813C>T NP_000775.1:p.Tyr271=
XM_017003488.2:c.393C>T XP_016858977.1:p.Tyr131=
NM_000784.4:c.813C>T MANE Select NP_000775.1:p.Tyr271=
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Search 100 bp 3'