Canonical Allele Identifier: CA368020118

Gene: PCLO

Linked Data

• dbSNP Id: rs1360171125
• gnomAD v3: 7-82824292-G-A
• gnomAD v4: 7-82824292-G-A
• MyVariant Identifiers: chr7:g.82453608G>A (hg19) ; chr7:g.82824292G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824292G>A , CM000669.2:g.82824292G>A	GRCh38
NC_000007.13:g.82453608G>A , CM000669.1:g.82453608G>A	GRCh37
NC_000007.12:g.82291544G>A	NCBI36
NG_047145.1:g.343590C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333891.14:c.14540C>T MANE Select	ENSP00000334319.8:p.Pro4847Leu
ENST00000333891.13:c.14540C>T	ENSP00000334319.8:p.Pro4847Leu
ENST00000423517.6:c.14540C>T	ENSP00000388393.2:p.Pro4847Leu
ENST00000426442.6:n.1035C>T
ENST00000618073.1:c.803C>T	ENSP00000482390.1:p.Pro268Leu
NM_014510.2:c.14540C>T	NP_055325.2:p.Pro4847Leu
NM_033026.5:c.14540C>T	NP_149015.2:p.Pro4847Leu
XM_017012006.2:c.7445C>T	XP_016867495.1:p.Pro2482Leu
XM_017012007.1:c.7418C>T	XP_016867496.1:p.Pro2473Leu
XR_001744643.2:n.16109C>T
NM_033026.6:c.14540C>T MANE Select	NP_149015.2:p.Pro4847Leu
NM_014510.3:c.14540C>T	NP_055325.2:p.Pro4847Leu