Canonical Allele Identifier: CA6658394
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs775846356
ExAC: 12:58159043 G / GC
gnomAD v2: 12-58159043-G-GC
gnomAD v3: 12-57765260-G-GC
gnomAD v4: 12-57765260-G-GC
MyVariant Identifiers: chr12:g.58159043_58159044insC (hg19) chr12:g.57765260_57765261insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765265dup , CM000674.2:g.57765265dup GRCh38
NC_000012.11:g.58159048dup , CM000674.1:g.58159048dup GRCh37
NC_000012.10:g.56445315dup NCBI36
NG_007076.1:g.6933dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.501+36dup
ENST00000713544.1:c.670+36dup ENSP00000518840.1:n.670+36dup
ENST00000713545.1:c.647+36dup ENSP00000518841.1:n.647+36dup
ENST00000228606.9:c.589+36dup MANE Select ENSP00000228606.4:n.589+36dup
ENST00000228606.8:c.589+36dup ENSP00000228606.4:n.589+36dup
ENST00000546567.5:c.-117+36dup ENSP00000449472.1:n.-117+36dup
ENST00000546609.1:c.501+36dup
ENST00000547344.5:n.679dup
ENST00000547451.1:n.389+36dup
NM_000785.3:c.589+36dup NP_000776.1:n.589+36dup
NM_000785.4:c.589+36dup MANE Select NP_000776.1:n.589+36dup
Search 100 bp 5'
Search 100 bp 3'