Canonical Allele Identifier: CA360483127
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416079A>C , CM000667.2:g.96416079A>C GRCh38
NC_000005.9:g.95751783A>C , CM000667.1:g.95751783A>C GRCh37
NC_000005.8:g.95777539A>C NCBI36
NG_021161.1:g.22203T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.663T>G MANE Select ENSP00000308024.2:p.Asn221Lys
ENST00000311106.7:c.663T>G ENSP00000308024.2:p.Asn221Lys
ENST00000508626.5:c.522T>G ENSP00000421600.1:p.Asn174Lys
NM_000439.4:c.663T>G NP_000430.3:p.Asn221Lys
NM_001177875.1:c.522T>G NP_001171346.1:p.Asn174Lys
NR_130776.1:n.354+36427A>C
NM_000439.5:c.663T>G MANE Select NP_000430.3:p.Asn221Lys
NM_001177875.2:c.522T>G NP_001171346.1:p.Asn174Lys