Canonical Allele Identifier: CA360485242
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632058
ClinVar RCV Id: RCV003414556
dbSNP Id: rs1339347581
gnomAD v2: 5-95764966-G-C
gnomAD v3: 5-96429262-G-C
gnomAD v4: 5-96429262-G-C
MyVariant Identifiers: chr5:g.95764966G>C (hg19) chr5:g.96429262G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429262G>C , CM000667.2:g.96429262G>C GRCh38
NC_000005.9:g.95764966G>C , CM000667.1:g.95764966G>C GRCh37
NC_000005.8:g.95790722G>C NCBI36
NG_021161.1:g.9020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.236C>G MANE Select ENSP00000308024.2:p.Ser79Cys
ENST00000311106.7:c.236C>G ENSP00000308024.2:p.Ser79Cys
ENST00000508626.5:c.95C>G ENSP00000421600.1:p.Ser32Cys
ENST00000509190.1:c.236C>G ENSP00000427294.1:p.Ser79Cys
NM_000439.4:c.236C>G NP_000430.3:p.Ser79Cys
NM_001177875.1:c.95C>G NP_001171346.1:p.Ser32Cys
NR_130776.1:n.354+49610G>C
NM_000439.5:c.236C>G MANE Select NP_000430.3:p.Ser79Cys
NM_001177875.2:c.95C>G NP_001171346.1:p.Ser32Cys
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