Canonical Allele Identifier: CA15518825

Gene: PCLO

Linked Data

• dbSNP Id: rs2715148
• gnomAD v2: 7-82450035-A-C
• gnomAD v3: 7-82820719-A-C
• gnomAD v4: 7-82820719-A-C
• MyVariant Identifiers: chr7:g.82450035A>C (hg19) ; chr7:g.82820719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82820719A>C , CM000669.2:g.82820719A>C	GRCh38
NC_000007.13:g.82450035A>C , CM000669.1:g.82450035A>C	GRCh37
NC_000007.12:g.82287971A>C	NCBI36
NG_047145.1:g.347163T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333891.14:c.14791+1776T>G MANE Select	ENSP00000334319.8:n.14791+1776T>G
ENST00000333891.13:c.14791+1776T>G	ENSP00000334319.8:n.14791+1776T>G
ENST00000423517.6:c.*1759T>G	ENSP00000388393.2:n.*1759T>G
ENST00000432078.2:n.279+393T>G
NM_014510.2:c.*1759T>G	NP_055325.2:n.*1759T>G
NM_033026.5:c.14791+1776T>G	NP_149015.2:n.14791+1776T>G
XM_017012006.2:c.7879+393T>G	XP_016867495.1:n.7879+393T>G
XR_001744643.2:n.17743+393T>G
NM_033026.6:c.14791+1776T>G MANE Select	NP_149015.2:n.14791+1776T>G
NM_014510.3:c.*1759T>G	NP_055325.2:n.*1759T>G