Canonical Allele Identifier: CA368020554

Gene: PCLO

Linked Data

• gnomAD v4: 7-82824407-C-T
• COSMIC: COSM3640954 ; COSM3640955 ; COSM4906146
• MyVariant Identifiers: chr7:g.82453723C>T (hg19) ; chr7:g.82824407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824407C>T , CM000669.2:g.82824407C>T	GRCh38
NC_000007.13:g.82453723C>T , CM000669.1:g.82453723C>T	GRCh37
NC_000007.12:g.82291659C>T	NCBI36
NG_047145.1:g.343475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333891.14:c.14425G>A MANE Select	ENSP00000334319.8:p.Asp4809Asn
ENST00000333891.13:c.14425G>A	ENSP00000334319.8:p.Asp4809Asn
ENST00000423517.6:c.14425G>A	ENSP00000388393.2:p.Asp4809Asn
ENST00000426442.6:n.920G>A
ENST00000618073.1:c.688G>A	ENSP00000482390.1:p.Asp230Asn
NM_014510.2:c.14425G>A	NP_055325.2:p.Asp4809Asn
NM_033026.5:c.14425G>A	NP_149015.2:p.Asp4809Asn
XM_017012006.2:c.7330G>A	XP_016867495.1:p.Asp2444Asn
XM_017012007.1:c.7303G>A	XP_016867496.1:p.Asp2435Asn
XR_001744643.2:n.15994G>A
NM_033026.6:c.14425G>A MANE Select	NP_149015.2:p.Asp4809Asn
NM_014510.3:c.14425G>A	NP_055325.2:p.Asp4809Asn