Canonical Allele Identifier: CA4933385

Gene: CYC1

Linked Data

• ClinVar Variation Id: 515732
• ClinVar RCV Id: RCV001698466 ; RCV003935705
• dbSNP Id: rs780421772
• ExAC: 8:145151150 G / A
• gnomAD v2: 8-145151150-G-A
• gnomAD v3: 8-144096247-G-A
• gnomAD v4: 8-144096247-G-A
• MyVariant Identifiers: chr8:g.145151150G>A (hg19) ; chr8:g.144096247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144096247G>A , CM000670.2:g.144096247G>A	GRCh38
NC_000008.10:g.145151150G>A , CM000670.1:g.145151150G>A	GRCh37
NC_000008.9:g.145223138G>A	NCBI36
NG_033872.1:g.6213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318911.5:c.450G>A MANE Select	ENSP00000317159.4:p.Ala150=
ENST00000318911.4:c.450G>A	ENSP00000317159.4:p.Ala150=
ENST00000528618.1:n.649G>A
ENST00000533444.1:n.1115G>A
NM_001916.4:c.450G>A	NP_001907.2:p.Ala150=
XM_017013102.1:c.273G>A	XP_016868591.1:p.Ala91=
XM_024447072.1:c.273G>A	XP_024302840.1:p.Ala91=
NM_001916.5:c.450G>A MANE Select	NP_001907.3:p.Ala150=