Canonical Allele Identifier: CA2112714
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1431957
ClinVar RCV Id: RCV001941018
dbSNP Id: rs757682669
ExAC: 2:219677413 G / T
gnomAD v2: 2-219677413-G-T
gnomAD v3: 2-218812690-G-T
gnomAD v4: 2-218812690-G-T
MyVariant Identifiers: chr2:g.219677413G>T (hg19) chr2:g.218812690G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812690G>T , CM000664.2:g.218812690G>T GRCh38
NC_000002.11:g.219677413G>T , CM000664.1:g.219677413G>T GRCh37
NC_000002.10:g.219385657G>T NCBI36
NG_007959.1:g.35942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.785G>T MANE Select ENSP00000258415.4:p.Arg262Leu
ENST00000258415.8:c.785G>T ENSP00000258415.4:p.Arg262Leu
ENST00000411688.1:c.503G>T ENSP00000392671.1:p.Arg168Leu
ENST00000445971.1:c.*246G>T ENSP00000404945.1:n.*246G>T
ENST00000466602.1:n.733G>T
ENST00000494263.5:n.1219G>T
NM_000784.3:c.785G>T NP_000775.1:p.Arg262Leu
XM_017003488.2:c.365G>T XP_016858977.1:p.Arg122Leu
NM_000784.4:c.785G>T MANE Select NP_000775.1:p.Arg262Leu
Search 100 bp 5'
Search 100 bp 3'