Canonical Allele Identifier: CA122935896

Gene: PCSK1

Linked Data

• dbSNP Id: rs868205015
• COSMIC: COSM3618873
• MyVariant Identifiers: chr5:g.95765009C>T (hg19) ; chr5:g.96429305C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.193G>A MANE Select	ENSP00000308024.2:p.Glu65Lys
ENST00000311106.7:c.193G>A	ENSP00000308024.2:p.Glu65Lys
ENST00000508626.5:c.52G>A	ENSP00000421600.1:p.Glu18Lys
ENST00000509190.1:c.193G>A	ENSP00000427294.1:p.Glu65Lys
NM_000439.4:c.193G>A	NP_000430.3:p.Glu65Lys
NM_001177875.1:c.52G>A	NP_001171346.1:p.Glu18Lys
NR_130776.1:n.354+49653C>T
NM_000439.5:c.193G>A MANE Select	NP_000430.3:p.Glu65Lys
NM_001177875.2:c.52G>A	NP_001171346.1:p.Glu18Lys