Canonical Allele Identifier: CA368020528

Gene: PCLO

Linked Data

• gnomAD v4: 7-82824396-G-C
• MyVariant Identifiers: chr7:g.82453712G>C (hg19) ; chr7:g.82824396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824396G>C , CM000669.2:g.82824396G>C	GRCh38
NC_000007.13:g.82453712G>C , CM000669.1:g.82453712G>C	GRCh37
NC_000007.12:g.82291648G>C	NCBI36
NG_047145.1:g.343486C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333891.14:c.14436C>G MANE Select	ENSP00000334319.8:p.Ser4812Arg
ENST00000333891.13:c.14436C>G	ENSP00000334319.8:p.Ser4812Arg
ENST00000423517.6:c.14436C>G	ENSP00000388393.2:p.Ser4812Arg
ENST00000426442.6:n.931C>G
ENST00000618073.1:c.699C>G	ENSP00000482390.1:p.Ser233Arg
NM_014510.2:c.14436C>G	NP_055325.2:p.Ser4812Arg
NM_033026.5:c.14436C>G	NP_149015.2:p.Ser4812Arg
XM_017012006.2:c.7341C>G	XP_016867495.1:p.Ser2447Arg
XM_017012007.1:c.7314C>G	XP_016867496.1:p.Ser2438Arg
XR_001744643.2:n.16005C>G
NM_033026.6:c.14436C>G MANE Select	NP_149015.2:p.Ser4812Arg
NM_014510.3:c.14436C>G	NP_055325.2:p.Ser4812Arg