Canonical Allele Identifier: CA4933564

Gene: CYC1

Linked Data

• ClinVar Variation Id: 389380
• ClinVar RCV Id: RCV000435075 ; RCV002063462 ; RCV002502570 ; RCV003922822
• dbSNP Id: rs200281879
• ExAC: 8:145152044 G / A
• gnomAD v2: 8-145152044-G-A
• gnomAD v3: 8-144097141-G-A
• gnomAD v4: 8-144097141-G-A
• MyVariant Identifiers: chr8:g.145152044G>A (hg19) ; chr8:g.144097141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144097141G>A , CM000670.2:g.144097141G>A	GRCh38
NC_000008.10:g.145152044G>A , CM000670.1:g.145152044G>A	GRCh37
NC_000008.9:g.145224032G>A	NCBI36
NG_033872.1:g.7107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318911.5:c.873+7G>A MANE Select	ENSP00000317159.4:n.873+7G>A
ENST00000318911.4:c.873+7G>A	ENSP00000317159.4:n.873+7G>A
ENST00000525122.1:n.508G>A
ENST00000533444.1:n.1538+7G>A
NM_001916.4:c.873+7G>A	NP_001907.2:n.873+7G>A
XM_017013102.1:c.703G>A	XP_016868591.1:p.Gly235Arg
XM_024447072.1:c.696+7G>A	XP_024302840.1:n.696+7G>A
NM_001916.5:c.873+7G>A MANE Select	NP_001907.3:n.873+7G>A