Canonical Allele Identifier: CA368020542

Gene: PCLO

Linked Data

• dbSNP Id: rs1458660969
• gnomAD v2: 7-82453719-A-C
• gnomAD v4: 7-82824403-A-C
• MyVariant Identifiers: chr7:g.82453719A>C (hg19) ; chr7:g.82824403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824403A>C , CM000669.2:g.82824403A>C	GRCh38
NC_000007.13:g.82453719A>C , CM000669.1:g.82453719A>C	GRCh37
NC_000007.12:g.82291655A>C	NCBI36
NG_047145.1:g.343479T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333891.14:c.14429T>G MANE Select	ENSP00000334319.8:p.Leu4810Ter
ENST00000333891.13:c.14429T>G	ENSP00000334319.8:p.Leu4810Ter
ENST00000423517.6:c.14429T>G	ENSP00000388393.2:p.Leu4810Ter
ENST00000426442.6:n.924T>G
ENST00000618073.1:c.692T>G	ENSP00000482390.1:p.Leu231Ter
NM_014510.2:c.14429T>G	NP_055325.2:p.Leu4810Ter
NM_033026.5:c.14429T>G	NP_149015.2:p.Leu4810Ter
XM_017012006.2:c.7334T>G	XP_016867495.1:p.Leu2445Ter
XM_017012007.1:c.7307T>G	XP_016867496.1:p.Leu2436Ter
XR_001744643.2:n.15998T>G
NM_033026.6:c.14429T>G MANE Select	NP_149015.2:p.Leu4810Ter
NM_014510.3:c.14429T>G	NP_055325.2:p.Leu4810Ter