Canonical Allele Identifier: CA445491618

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 746709
• ClinVar RCV Id: RCV000923337
• dbSNP Id: rs1580745990
• gnomAD v4: 5-96398970-A-G
• MyVariant Identifiers: chr5:g.95734674A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398970A>G , CM000667.2:g.96398970A>G	GRCh38
NC_000005.9:g.95734674A>G , CM000667.1:g.95734674A>G	GRCh37
NC_000005.8:g.95760430A>G	NCBI36
NG_021161.1:g.39312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1497T>C MANE Select	ENSP00000308024.2:p.Asn499=
ENST00000311106.7:c.1497T>C	ENSP00000308024.2:p.Asn499=
ENST00000508626.5:c.1356T>C	ENSP00000421600.1:p.Asn452=
ENST00000513085.1:n.640T>C
NM_000439.4:c.1497T>C	NP_000430.3:p.Asn499=
NM_001177875.1:c.1356T>C	NP_001171346.1:p.Asn452=
NR_130776.1:n.354+19318A>G
NM_000439.5:c.1497T>C MANE Select	NP_000430.3:p.Asn499=
NM_001177875.2:c.1356T>C	NP_001171346.1:p.Asn452=