Canonical Allele Identifier: CA248885

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 218456
• ClinVar RCV Id: RCV000202686
• dbSNP Id: rs864309557
• MyVariant Identifiers: chr5:g.95746539T>G (hg19) ; chr5:g.96410835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96410835T>G , CM000667.2:g.96410835T>G	GRCh38
NC_000005.9:g.95746539T>G , CM000667.1:g.95746539T>G	GRCh37
NC_000005.8:g.95772295T>G	NCBI36
NG_021161.1:g.27447A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.1034A>C MANE Select	ENSP00000308024.2:p.Glu345Ala
ENST00000311106.7:c.1034A>C	ENSP00000308024.2:p.Glu345Ala
ENST00000508626.5:c.893A>C	ENSP00000421600.1:p.Glu298Ala
ENST00000513085.1:n.238+1483A>C
NM_000439.4:c.1034A>C	NP_000430.3:p.Glu345Ala
NM_001177875.1:c.893A>C	NP_001171346.1:p.Glu298Ala
NR_130776.1:n.354+31183T>G
NM_000439.5:c.1034A>C MANE Select	NP_000430.3:p.Glu345Ala
NM_001177875.2:c.893A>C	NP_001171346.1:p.Glu298Ala