Canonical Allele Identifier: CA2674666419
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96416159-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416159A>C , CM000667.2:g.96416159A>C GRCh38
NC_000005.9:g.95751863A>C , CM000667.1:g.95751863A>C GRCh37
NC_000005.8:g.95777619A>C NCBI36
NG_021161.1:g.22123T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.621-38T>G MANE Select ENSP00000308024.2:n.621-38T>G
ENST00000311106.7:c.621-38T>G ENSP00000308024.2:n.621-38T>G
ENST00000508626.5:c.480-38T>G ENSP00000421600.1:n.480-38T>G
NM_000439.4:c.621-38T>G NP_000430.3:n.621-38T>G
NM_001177875.1:c.480-38T>G NP_001171346.1:n.480-38T>G
NR_130776.1:n.354+36507A>C
NM_000439.5:c.621-38T>G MANE Select NP_000430.3:n.621-38T>G
NM_001177875.2:c.480-38T>G NP_001171346.1:n.480-38T>G
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