Canonical Allele Identifier: CA605706862

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1207062923
• gnomAD v2: 12-58159062-C-T
• gnomAD v4: 12-57765279-C-T
• MyVariant Identifiers: chr12:g.58159062C>T (hg19) ; chr12:g.57765279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765279C>T , CM000674.2:g.57765279C>T	GRCh38
NC_000012.11:g.58159062C>T , CM000674.1:g.58159062C>T	GRCh37
NC_000012.10:g.56445329C>T	NCBI36
NG_007076.1:g.6915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.501+18G>A
ENST00000713544.1:c.670+18G>A	ENSP00000518840.1:n.670+18G>A
ENST00000713545.1:c.647+18G>A	ENSP00000518841.1:n.647+18G>A
ENST00000228606.9:c.589+18G>A MANE Select	ENSP00000228606.4:n.589+18G>A
ENST00000228606.8:c.589+18G>A	ENSP00000228606.4:n.589+18G>A
ENST00000546567.5:c.-117+18G>A	ENSP00000449472.1:n.-117+18G>A
ENST00000546609.1:c.501+18G>A
ENST00000547344.5:n.661G>A
ENST00000547451.1:n.389+18G>A
NM_000785.3:c.589+18G>A	NP_000776.1:n.589+18G>A
NM_000785.4:c.589+18G>A MANE Select	NP_000776.1:n.589+18G>A