Canonical Allele Identifier: CA360483116
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416077T>C , CM000667.2:g.96416077T>C GRCh38
NC_000005.9:g.95751781T>C , CM000667.1:g.95751781T>C GRCh37
NC_000005.8:g.95777537T>C NCBI36
NG_021161.1:g.22205A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.665A>G MANE Select ENSP00000308024.2:p.Asn222Ser
ENST00000311106.7:c.665A>G ENSP00000308024.2:p.Asn222Ser
ENST00000508626.5:c.524A>G ENSP00000421600.1:p.Asn175Ser
NM_000439.4:c.665A>G NP_000430.3:p.Asn222Ser
NM_001177875.1:c.524A>G NP_001171346.1:p.Asn175Ser
NR_130776.1:n.354+36425T>C
NM_000439.5:c.665A>G MANE Select NP_000430.3:p.Asn222Ser
NM_001177875.2:c.524A>G NP_001171346.1:p.Asn175Ser