Canonical Allele Identifier: CA6658248
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs775708027
ExAC: 12:58158307 C / G
gnomAD v2: 12-58158307-C-G
gnomAD v3: 12-57764524-C-G
gnomAD v4: 12-57764524-C-G
MyVariant Identifiers: chr12:g.58158307C>G (hg19) chr12:g.57764524C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764524C>G , CM000674.2:g.57764524C>G GRCh38
NC_000012.11:g.58158307C>G , CM000674.1:g.58158307C>G GRCh37
NC_000012.10:g.56444574C>G NCBI36
NG_007076.1:g.7670G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1071G>C ENSP00000518840.1:p.Leu357=
ENST00000713545.1:c.1048G>C ENSP00000518841.1:p.Val350Leu
ENST00000228606.9:c.990G>C MANE Select ENSP00000228606.4:p.Leu330=
ENST00000228606.8:c.990G>C ENSP00000228606.4:p.Leu330=
ENST00000546567.5:c.285G>C ENSP00000449472.1:p.Leu95=
ENST00000547344.5:n.1129G>C
NM_000785.3:c.990G>C NP_000776.1:p.Leu330=
NM_000785.4:c.990G>C MANE Select NP_000776.1:p.Leu330=
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