Canonical Allele Identifier: CA360479173

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95734731T>A (hg19) ; chr5:g.96399027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399027T>A , CM000667.2:g.96399027T>A	GRCh38
NC_000005.9:g.95734731T>A , CM000667.1:g.95734731T>A	GRCh37
NC_000005.8:g.95760487T>A	NCBI36
NG_021161.1:g.39255A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.1440A>T MANE Select	ENSP00000308024.2:p.Lys480Asn
ENST00000311106.7:c.1440A>T	ENSP00000308024.2:p.Lys480Asn
ENST00000508626.5:c.1299A>T	ENSP00000421600.1:p.Lys433Asn
ENST00000513085.1:n.583A>T
NM_000439.4:c.1440A>T	NP_000430.3:p.Lys480Asn
NM_001177875.1:c.1299A>T	NP_001171346.1:p.Lys433Asn
NR_130776.1:n.354+19375T>A
NM_000439.5:c.1440A>T MANE Select	NP_000430.3:p.Lys480Asn
NM_001177875.2:c.1299A>T	NP_001171346.1:p.Lys433Asn