Canonical Allele Identifier: CA360485349
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429305C>G , CM000667.2:g.96429305C>G GRCh38
NC_000005.9:g.95765009C>G , CM000667.1:g.95765009C>G GRCh37
NC_000005.8:g.95790765C>G NCBI36
NG_021161.1:g.8977G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.193G>C MANE Select ENSP00000308024.2:p.Glu65Gln
ENST00000311106.7:c.193G>C ENSP00000308024.2:p.Glu65Gln
ENST00000508626.5:c.52G>C ENSP00000421600.1:p.Glu18Gln
ENST00000509190.1:c.193G>C ENSP00000427294.1:p.Glu65Gln
NM_000439.4:c.193G>C NP_000430.3:p.Glu65Gln
NM_001177875.1:c.52G>C NP_001171346.1:p.Glu18Gln
NR_130776.1:n.354+49653C>G
NM_000439.5:c.193G>C MANE Select NP_000430.3:p.Glu65Gln
NM_001177875.2:c.52G>C NP_001171346.1:p.Glu18Gln