Canonical Allele Identifier: CA360485338
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429301-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429301T>C , CM000667.2:g.96429301T>C GRCh38
NC_000005.9:g.95765005T>C , CM000667.1:g.95765005T>C GRCh37
NC_000005.8:g.95790761T>C NCBI36
NG_021161.1:g.8981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.197A>G MANE Select ENSP00000308024.2:p.Asn66Ser
ENST00000311106.7:c.197A>G ENSP00000308024.2:p.Asn66Ser
ENST00000508626.5:c.56A>G ENSP00000421600.1:p.Asn19Ser
ENST00000509190.1:c.197A>G ENSP00000427294.1:p.Asn66Ser
NM_000439.4:c.197A>G NP_000430.3:p.Asn66Ser
NM_001177875.1:c.56A>G NP_001171346.1:p.Asn19Ser
NR_130776.1:n.354+49649T>C
NM_000439.5:c.197A>G MANE Select NP_000430.3:p.Asn66Ser
NM_001177875.2:c.56A>G NP_001171346.1:p.Asn19Ser