Canonical Allele Identifier: CA6658259

Gene: CYP27B1

Linked Data

• dbSNP Id: rs749181794
• ExAC: 12:58158365 G / GGGTGT
• gnomAD v2: 12-58158365-G-GGGTGT
• gnomAD v4: 12-57764582-G-GGGTGT
• MyVariant Identifiers: chr12:g.58158365_58158366insGGTGT (hg19) ; chr12:g.57764582_57764583insGGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764584_57764588dup , CM000674.2:g.57764584_57764588dup	GRCh38
NC_000012.11:g.58158367_58158371dup , CM000674.1:g.58158367_58158371dup	GRCh37
NC_000012.10:g.56444634_56444638dup	NCBI36
NG_007076.1:g.7607_7611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-37_1045-33dup	ENSP00000518840.1:n.1045-37_1045-33dup
ENST00000713545.1:c.1022-37_1022-33dup	ENSP00000518841.1:n.1022-37_1022-33dup
ENST00000228606.9:c.964-37_964-33dup MANE Select	ENSP00000228606.4:n.964-37_964-33dup
ENST00000228606.8:c.964-37_964-33dup	ENSP00000228606.4:n.964-37_964-33dup
ENST00000546567.5:c.259-37_259-33dup	ENSP00000449472.1:n.259-37_259-33dup
ENST00000547344.5:n.1103-37_1103-33dup
ENST00000547451.1:n.930_934dup
NM_000785.3:c.964-37_964-33dup	NP_000776.1:n.964-37_964-33dup
NM_000785.4:c.964-37_964-33dup MANE Select	NP_000776.1:n.964-37_964-33dup