Canonical Allele Identifier: CA360483289

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96416113-G-T
• MyVariant Identifiers: chr5:g.95751817G>T (hg19) ; chr5:g.96416113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416113G>T , CM000667.2:g.96416113G>T	GRCh38
NC_000005.9:g.95751817G>T , CM000667.1:g.95751817G>T	GRCh37
NC_000005.8:g.95777573G>T	NCBI36
NG_021161.1:g.22169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.629C>A MANE Select	ENSP00000308024.2:p.Thr210Asn
ENST00000311106.7:c.629C>A	ENSP00000308024.2:p.Thr210Asn
ENST00000508626.5:c.488C>A	ENSP00000421600.1:p.Thr163Asn
NM_000439.4:c.629C>A	NP_000430.3:p.Thr210Asn
NM_001177875.1:c.488C>A	NP_001171346.1:p.Thr163Asn
NR_130776.1:n.354+36461G>T
NM_000439.5:c.629C>A MANE Select	NP_000430.3:p.Thr210Asn
NM_001177875.2:c.488C>A	NP_001171346.1:p.Thr163Asn