Canonical Allele Identifier: CA1565402629
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393311A= , CM000667.2:g.96393311A= GRCh38
NC_000005.9:g.95729015A= , CM000667.1:g.95729015A= GRCh37
NC_000005.8:g.95754771A= NCBI36
NG_021161.1:g.44971T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1952T= MANE Select ENSP00000308024.2:p.Val651=
ENST00000311106.7:c.1952T= ENSP00000308024.2:p.Val651=
ENST00000508626.5:c.1811T= ENSP00000421600.1:p.Val604=
ENST00000513085.1:n.1095T=
NM_000439.4:c.1952T= NP_000430.3:p.Val651=
NM_001177875.1:c.1811T= NP_001171346.1:p.Val604=
NR_130776.1:n.354+13659A=
NM_000439.5:c.1952T= MANE Select NP_000430.3:p.Val651=
NM_001177875.2:c.1811T= NP_001171346.1:p.Val604=