Canonical Allele Identifier: CA368020547

Gene: PCLO

Linked Data

• dbSNP Id: rs1334567192
• gnomAD v3: 7-82824405-A-C
• gnomAD v4: 7-82824405-A-C
• MyVariant Identifiers: chr7:g.82453721A>C (hg19) ; chr7:g.82824405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824405A>C , CM000669.2:g.82824405A>C	GRCh38
NC_000007.13:g.82453721A>C , CM000669.1:g.82453721A>C	GRCh37
NC_000007.12:g.82291657A>C	NCBI36
NG_047145.1:g.343477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333891.14:c.14427T>G MANE Select	ENSP00000334319.8:p.Asp4809Glu
ENST00000333891.13:c.14427T>G	ENSP00000334319.8:p.Asp4809Glu
ENST00000423517.6:c.14427T>G	ENSP00000388393.2:p.Asp4809Glu
ENST00000426442.6:n.922T>G
ENST00000618073.1:c.690T>G	ENSP00000482390.1:p.Asp230Glu
NM_014510.2:c.14427T>G	NP_055325.2:p.Asp4809Glu
NM_033026.5:c.14427T>G	NP_149015.2:p.Asp4809Glu
XM_017012006.2:c.7332T>G	XP_016867495.1:p.Asp2444Glu
XM_017012007.1:c.7305T>G	XP_016867496.1:p.Asp2435Glu
XR_001744643.2:n.15996T>G
NM_033026.6:c.14427T>G MANE Select	NP_149015.2:p.Asp4809Glu
NM_014510.3:c.14427T>G	NP_055325.2:p.Asp4809Glu