Canonical Allele Identifier: CA690329705

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1257668498
• gnomAD v4: 12-57764296-TATCTCCCTGCTTCC-T
• MyVariant Identifiers: chr12:g.58158080_58158093del (hg19) ; chr12:g.57764297_57764310del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764300_57764313del , CM000674.2:g.57764300_57764313del	GRCh38
NC_000012.11:g.58158083_58158096del , CM000674.1:g.58158083_58158096del	GRCh37
NC_000012.10:g.56444350_56444363del	NCBI36
NG_007076.1:g.7884_7897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+68_1217+81del	ENSP00000518840.1:n.1217+68_1217+81del
ENST00000713545.1:c.*141+68_*141+81del	ENSP00000518841.1:n.*141+68_*141+81del
ENST00000228606.9:c.1136+68_1136+81del MANE Select	ENSP00000228606.4:n.1136+68_1136+81del
ENST00000228606.8:c.1136+68_1136+81del	ENSP00000228606.4:n.1136+68_1136+81del
ENST00000546567.5:c.431+68_431+81del	ENSP00000449472.1:n.431+68_431+81del
ENST00000547344.5:n.1275+68_1275+81del
NM_000785.3:c.1136+68_1136+81del	NP_000776.1:n.1136+68_1136+81del
NM_000785.4:c.1136+68_1136+81del MANE Select	NP_000776.1:n.1136+68_1136+81del