Canonical Allele Identifier: CA360485078
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700948
ClinVar RCV Id: RCV002275437
dbSNP Id: rs1761413119
gnomAD v4: 5-96429218-C-T
MyVariant Identifiers: chr5:g.95764922C>T (hg19) chr5:g.96429218C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429218C>T , CM000667.2:g.96429218C>T GRCh38
NC_000005.9:g.95764922C>T , CM000667.1:g.95764922C>T GRCh37
NC_000005.8:g.95790678C>T NCBI36
NG_021161.1:g.9064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.280G>A MANE Select ENSP00000308024.2:p.Asp94Asn
ENST00000311106.7:c.280G>A ENSP00000308024.2:p.Asp94Asn
ENST00000508626.5:c.139G>A ENSP00000421600.1:p.Asp47Asn
ENST00000509190.1:c.280G>A ENSP00000427294.1:p.Asp94Asn
NM_000439.4:c.280G>A NP_000430.3:p.Asp94Asn
NM_001177875.1:c.139G>A NP_001171346.1:p.Asp47Asn
NR_130776.1:n.354+49566C>T
NM_000439.5:c.280G>A MANE Select NP_000430.3:p.Asp94Asn
NM_001177875.2:c.139G>A NP_001171346.1:p.Asp47Asn
Search 100 bp 5'
Search 100 bp 3'