Canonical Allele Identifier: CA690330144

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1280634797
• MyVariant Identifiers: chr12:g.58158432_58158433insTTA (hg19) ; chr12:g.57764649_57764650insTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764650_57764651insTAT , CM000674.2:g.57764650_57764651insTAT	GRCh38
NC_000012.11:g.58158433_58158434insTAT , CM000674.1:g.58158433_58158434insTAT	GRCh37
NC_000012.10:g.56444700_56444701insTAT	NCBI36
NG_007076.1:g.7544_7545insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-100_1045-99insTAA	ENSP00000518840.1:n.1045-100_1045-99insTAA
ENST00000713545.1:c.1022-100_1022-99insTAA	ENSP00000518841.1:n.1022-100_1022-99insTAA
ENST00000228606.9:c.964-100_964-99insTAA MANE Select	ENSP00000228606.4:n.964-100_964-99insTAA
ENST00000228606.8:c.964-100_964-99insTAA	ENSP00000228606.4:n.964-100_964-99insTAA
ENST00000546567.5:c.259-100_259-99insTAA	ENSP00000449472.1:n.259-100_259-99insTAA
ENST00000547344.5:n.1103-100_1103-99insTAA
ENST00000547451.1:n.867_868insTAA
NM_000785.3:c.964-100_964-99insTAA	NP_000776.1:n.964-100_964-99insTAA
NM_000785.4:c.964-100_964-99insTAA MANE Select	NP_000776.1:n.964-100_964-99insTAA