Canonical Allele Identifier: CA229007

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 100812
• ClinVar RCV Id: RCV000087170
• dbSNP Id: rs483352693
• MyVariant Identifiers: chr5:g.95751746T>C (hg19) ; chr5:g.96416042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416042T>C , CM000667.2:g.96416042T>C	GRCh38
NC_000005.9:g.95751746T>C , CM000667.1:g.95751746T>C	GRCh37
NC_000005.8:g.95777502T>C	NCBI36
NG_021161.1:g.22240A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.700A>G MANE Select	ENSP00000308024.2:p.Lys234Glu
ENST00000311106.7:c.700A>G	ENSP00000308024.2:p.Lys234Glu
ENST00000508626.5:c.559A>G	ENSP00000421600.1:p.Lys187Glu
NM_000439.4:c.700A>G	NP_000430.3:p.Lys234Glu
NM_001177875.1:c.559A>G	NP_001171346.1:p.Lys187Glu
NR_130776.1:n.354+36390T>C
NM_000439.5:c.700A>G MANE Select	NP_000430.3:p.Lys234Glu
NM_001177875.2:c.559A>G	NP_001171346.1:p.Lys187Glu