Canonical Allele Identifier: CA161693433

Gene: PCLO

Linked Data

• dbSNP Id: rs748711285
• gnomAD v2: 7-82453512-T-C
• gnomAD v3: 7-82824196-T-C
• gnomAD v4: 7-82824196-T-C
• MyVariant Identifiers: chr7:g.82453512T>C (hg19) ; chr7:g.82824196T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824196T>C , CM000669.2:g.82824196T>C	GRCh38
NC_000007.13:g.82453512T>C , CM000669.1:g.82453512T>C	GRCh37
NC_000007.12:g.82291448T>C	NCBI36
NG_047145.1:g.343686A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333891.14:c.14596+40A>G MANE Select	ENSP00000334319.8:n.14596+40A>G
ENST00000333891.13:c.14596+40A>G	ENSP00000334319.8:n.14596+40A>G
ENST00000423517.6:c.14596+40A>G	ENSP00000388393.2:n.14596+40A>G
ENST00000426442.6:n.1091+40A>G
ENST00000618073.1:c.859+40A>G	ENSP00000482390.1:n.859+40A>G
NM_014510.2:c.14596+40A>G	NP_055325.2:n.14596+40A>G
NM_033026.5:c.14596+40A>G	NP_149015.2:n.14596+40A>G
XM_017012006.2:c.7501+40A>G	XP_016867495.1:n.7501+40A>G
XM_017012007.1:c.7474+40A>G	XP_016867496.1:n.7474+40A>G
XR_001744643.2:n.16165+40A>G
NM_033026.6:c.14596+40A>G MANE Select	NP_149015.2:n.14596+40A>G
NM_014510.3:c.14596+40A>G	NP_055325.2:n.14596+40A>G