Canonical Allele Identifier: CA204795
Gene: PACS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39581
ClinVar RCV Id: RCV000032781 RCV000190758 RCV000210719 RCV000429725 RCV000735338 RCV001095741 RCV001255394 RCV001310258 RCV001375021 RCV002251940 RCV003398585
dbSNP Id: rs398123009
ExAC: 11:65978677 C / T
gnomAD v2: 11-65978677-C-T
gnomAD v3: 11-66211206-C-T
gnomAD v4: 11-66211206-C-T
COSMIC: COSM72051
MyVariant Identifiers: chr11:g.65978677C>T (hg19) chr11:g.66211206C>T (hg38)
PubMed: PMID:9695949 PMID:23159249 PMID:25356970 PMID:25522177 PMID:25741872 PMID:26795593 PMID:26842493 PMID:27479843 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28975623
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66211206C>T , CM000673.2:g.66211206C>T GRCh38
NC_000011.9:g.65978677C>T , CM000673.1:g.65978677C>T GRCh37
NC_000011.8:g.65735253C>T NCBI36
NG_033900.1:g.145854C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320580.9:c.607C>T MANE Select ENSP00000316454.4:p.Arg203Trp
ENST00000320580.8:c.607C>T ENSP00000316454.4:p.Arg203Trp
ENST00000527224.1:n.731C>T
ENST00000527380.1:c.313C>T ENSP00000432639.1:p.Arg105Trp
ENST00000533756.5:c.298C>T ENSP00000437150.1:p.Arg100Trp
NM_018026.3:c.607C>T NP_060496.2:p.Arg203Trp
XM_011545162.1:c.286C>T XP_011543464.1:p.Arg96Trp
XM_011545163.1:c.277C>T XP_011543465.1:p.Arg93Trp
XM_011545164.1:c.268C>T XP_011543466.1:p.Arg90Trp
XM_011545164.2:c.268C>T XP_011543466.1:p.Arg90Trp
XR_001747924.1:n.818C>T
NM_018026.4:c.607C>T MANE Select NP_060496.2:p.Arg203Trp
Search 100 bp 5'
Search 100 bp 3'