Canonical Allele Identifier: CA128660
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14040
ClinVar RCV Id: RCV000022673 RCV000731192 RCV001636601
dbSNP Id: rs6232
ExAC: 5:95751785 T / C
gnomAD v2: 5-95751785-T-C
gnomAD v3: 5-96416081-T-C
gnomAD v4: 5-96416081-T-C
MyVariant Identifiers: chr5:g.95751785T>C (hg19) chr5:g.96416081T>C (hg38)
PubMed: PMID:18604207
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416081T>C , CM000667.2:g.96416081T>C GRCh38
NC_000005.9:g.95751785T>C , CM000667.1:g.95751785T>C GRCh37
NC_000005.8:g.95777541T>C NCBI36
NG_021161.1:g.22201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.661A>G MANE Select ENSP00000308024.2:p.Asn221Asp
ENST00000311106.7:c.661A>G ENSP00000308024.2:p.Asn221Asp
ENST00000508626.5:c.520A>G ENSP00000421600.1:p.Asn174Asp
NM_000439.4:c.661A>G NP_000430.3:p.Asn221Asp
NM_001177875.1:c.520A>G NP_001171346.1:p.Asn174Asp
NR_130776.1:n.354+36429T>C
NM_000439.5:c.661A>G MANE Select NP_000430.3:p.Asn221Asp
NM_001177875.2:c.520A>G NP_001171346.1:p.Asn174Asp
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