Canonical Allele Identifier: CA1565402647
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393317C= , CM000667.2:g.96393317C= GRCh38
NC_000005.9:g.95729021C= , CM000667.1:g.95729021C= GRCh37
NC_000005.8:g.95754777C= NCBI36
NG_021161.1:g.44965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1946G= MANE Select ENSP00000308024.2:p.Ser649=
ENST00000311106.7:c.1946G= ENSP00000308024.2:p.Ser649=
ENST00000508626.5:c.1805G= ENSP00000421600.1:p.Ser602=
ENST00000513085.1:n.1089G=
NM_000439.4:c.1946G= NP_000430.3:p.Ser649=
NM_001177875.1:c.1805G= NP_001171346.1:p.Ser602=
NR_130776.1:n.354+13665C=
NM_000439.5:c.1946G= MANE Select NP_000430.3:p.Ser649=
NM_001177875.2:c.1805G= NP_001171346.1:p.Ser602=