Canonical Allele Identifier: CA1565402472
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393194C= , CM000667.2:g.96393194C= GRCh38
NC_000005.9:g.95728898C= , CM000667.1:g.95728898C= GRCh37
NC_000005.8:g.95754654C= NCBI36
NG_021161.1:g.45088G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2069G= MANE Select ENSP00000308024.2:p.Ser690=
ENST00000311106.7:c.2069G= ENSP00000308024.2:p.Ser690=
ENST00000508626.5:c.1928G= ENSP00000421600.1:p.Ser643=
ENST00000513085.1:n.1212G=
NM_000439.4:c.2069G= NP_000430.3:p.Ser690=
NM_001177875.1:c.1928G= NP_001171346.1:p.Ser643=
NR_130776.1:n.354+13542C=
NM_000439.5:c.2069G= MANE Select NP_000430.3:p.Ser690=
NM_001177875.2:c.1928G= NP_001171346.1:p.Ser643=