Canonical Allele Identifier: CA4318797
Gene: PCLO HGNC NCBI

Linked Data

ClinVar Variation Id: 1284557
dbSNP Id: rs2522833
gnomAD v2: 7-82453708-A-C
gnomAD v3: 7-82824392-A-C
gnomAD v4: 7-82824392-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824392A>C , CM000669.2:g.82824392A>C GRCh38
NC_000007.13:g.82453708A>C , CM000669.1:g.82453708A>C GRCh37
NC_000007.12:g.82291644A>C NCBI36
NG_047145.1:g.343490T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333891.14:c.14440T>G MANE Select ENSP00000334319.8:p.Ser4814Ala
ENST00000333891.13:c.14440T>G ENSP00000334319.8:p.Ser4814Ala
ENST00000423517.6:c.14440T>G ENSP00000388393.2:p.Ser4814Ala
ENST00000426442.6:n.935T>G
ENST00000618073.1:c.703T>G ENSP00000482390.1:p.Ser235Ala
NM_014510.2:c.14440T>G NP_055325.2:p.Ser4814Ala
NM_033026.5:c.14440T>G NP_149015.2:p.Ser4814Ala
XM_017012006.2:c.7345T>G XP_016867495.1:p.Ser2449Ala
XM_017012007.1:c.7318T>G XP_016867496.1:p.Ser2440Ala
XR_001744643.2:n.16009T>G
NM_033026.6:c.14440T>G MANE Select NP_149015.2:p.Ser4814Ala
NM_014510.3:c.14440T>G NP_055325.2:p.Ser4814Ala