Canonical Allele Identifier: CA445498875
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429252-A-G
MyVariant Identifiers: chr5:g.95764956A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429252A>G , CM000667.2:g.96429252A>G GRCh38
NC_000005.9:g.95764956A>G , CM000667.1:g.95764956A>G GRCh37
NC_000005.8:g.95790712A>G NCBI36
NG_021161.1:g.9030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.246T>C MANE Select ENSP00000308024.2:p.Ser82=
ENST00000311106.7:c.246T>C ENSP00000308024.2:p.Ser82=
ENST00000508626.5:c.105T>C ENSP00000421600.1:p.Ser35=
ENST00000509190.1:c.246T>C ENSP00000427294.1:p.Ser82=
NM_000439.4:c.246T>C NP_000430.3:p.Ser82=
NM_001177875.1:c.105T>C NP_001171346.1:p.Ser35=
NR_130776.1:n.354+49600A>G
NM_000439.5:c.246T>C MANE Select NP_000430.3:p.Ser82=
NM_001177875.2:c.105T>C NP_001171346.1:p.Ser35=
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