Canonical Allele Identifier: CA372518196

Gene: CYC1

Linked Data

• ClinVar Variation Id: 1922200
• ClinVar RCV Id: RCV002621543 ; RCV004065773
• dbSNP Id: rs1262605886
• gnomAD v3: 8-144095224-C-T
• gnomAD v4: 8-144095224-C-T
• MyVariant Identifiers: chr8:g.145150127C>T (hg19) ; chr8:g.144095224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144095224C>T , CM000670.2:g.144095224C>T	GRCh38
NC_000008.10:g.145150127C>T , CM000670.1:g.145150127C>T	GRCh37
NC_000008.9:g.145222115C>T	NCBI36
NG_033872.1:g.5190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318911.5:c.125C>T MANE Select	ENSP00000317159.4:p.Pro42Leu
ENST00000318911.4:c.125C>T	ENSP00000317159.4:p.Pro42Leu
ENST00000533444.1:n.186C>T
NM_001916.4:c.125C>T	NP_001907.2:p.Pro42Leu
XM_017013102.1:c.-657C>T	XP_016868591.1:n.-657C>T
NM_001916.5:c.125C>T MANE Select	NP_001907.3:p.Pro42Leu