Canonical Allele Identifier: CA576268391

Gene: PCLO

Linked Data

• dbSNP Id: rs1283695672
• gnomAD v2: 7-82453520-A-G
• gnomAD v3: 7-82824204-A-G
• gnomAD v4: 7-82824204-A-G
• MyVariant Identifiers: chr7:g.82453520A>G (hg19) ; chr7:g.82824204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824204A>G , CM000669.2:g.82824204A>G	GRCh38
NC_000007.13:g.82453520A>G , CM000669.1:g.82453520A>G	GRCh37
NC_000007.12:g.82291456A>G	NCBI36
NG_047145.1:g.343678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333891.14:c.14596+32T>C MANE Select	ENSP00000334319.8:n.14596+32T>C
ENST00000333891.13:c.14596+32T>C	ENSP00000334319.8:n.14596+32T>C
ENST00000423517.6:c.14596+32T>C	ENSP00000388393.2:n.14596+32T>C
ENST00000426442.6:n.1091+32T>C
ENST00000618073.1:c.859+32T>C	ENSP00000482390.1:n.859+32T>C
NM_014510.2:c.14596+32T>C	NP_055325.2:n.14596+32T>C
NM_033026.5:c.14596+32T>C	NP_149015.2:n.14596+32T>C
XM_017012006.2:c.7501+32T>C	XP_016867495.1:n.7501+32T>C
XM_017012007.1:c.7474+32T>C	XP_016867496.1:n.7474+32T>C
XR_001744643.2:n.16165+32T>C
NM_033026.6:c.14596+32T>C MANE Select	NP_149015.2:n.14596+32T>C
NM_014510.3:c.14596+32T>C	NP_055325.2:n.14596+32T>C