Canonical Allele Identifier: CA3350558
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436280
ClinVar RCV Id: RCV000502243 RCV003925485
dbSNP Id: rs780272842
ExAC: 5:95765019 A / G
gnomAD v2: 5-95765019-A-G
gnomAD v3: 5-96429315-A-G
gnomAD v4: 5-96429315-A-G
MyVariant Identifiers: chr5:g.95765019A>G (hg19) chr5:g.96429315A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429315A>G , CM000667.2:g.96429315A>G GRCh38
NC_000005.9:g.95765019A>G , CM000667.1:g.95765019A>G GRCh37
NC_000005.8:g.95790775A>G NCBI36
NG_021161.1:g.8967T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.183T>C MANE Select ENSP00000308024.2:p.Ile61=
ENST00000311106.7:c.183T>C ENSP00000308024.2:p.Ile61=
ENST00000508626.5:c.42T>C ENSP00000421600.1:p.Ile14=
ENST00000509190.1:c.183T>C ENSP00000427294.1:p.Ile61=
NM_000439.4:c.183T>C NP_000430.3:p.Ile61=
NM_001177875.1:c.42T>C NP_001171346.1:p.Ile14=
NR_130776.1:n.354+49663A>G
NM_000439.5:c.183T>C MANE Select NP_000430.3:p.Ile61=
NM_001177875.2:c.42T>C NP_001171346.1:p.Ile14=
Search 100 bp 5'
Search 100 bp 3'