Canonical Allele Identifier: CA122899687
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs113162698
MyVariant Identifiers: chr5:g.95728915T>C (hg19) chr5:g.96393211T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393211T>C , CM000667.2:g.96393211T>C GRCh38
NC_000005.9:g.95728915T>C , CM000667.1:g.95728915T>C GRCh37
NC_000005.8:g.95754671T>C NCBI36
NG_021161.1:g.45071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2052A>G MANE Select ENSP00000308024.2:p.Ser684=
ENST00000311106.7:c.2052A>G ENSP00000308024.2:p.Ser684=
ENST00000508626.5:c.1911A>G ENSP00000421600.1:p.Ser637=
ENST00000513085.1:n.1195A>G
NM_000439.4:c.2052A>G NP_000430.3:p.Ser684=
NM_001177875.1:c.1911A>G NP_001171346.1:p.Ser637=
NR_130776.1:n.354+13559T>C
NM_000439.5:c.2052A>G MANE Select NP_000430.3:p.Ser684=
NM_001177875.2:c.1911A>G NP_001171346.1:p.Ser637=
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