Canonical Allele Identifier: CA360483071

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96416068-C-T
• MyVariant Identifiers: chr5:g.95751772C>T (hg19) ; chr5:g.96416068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416068C>T , CM000667.2:g.96416068C>T	GRCh38
NC_000005.9:g.95751772C>T , CM000667.1:g.95751772C>T	GRCh37
NC_000005.8:g.95777528C>T	NCBI36
NG_021161.1:g.22214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.674G>A MANE Select	ENSP00000308024.2:p.Cys225Tyr
ENST00000311106.7:c.674G>A	ENSP00000308024.2:p.Cys225Tyr
ENST00000508626.5:c.533G>A	ENSP00000421600.1:p.Cys178Tyr
NM_000439.4:c.674G>A	NP_000430.3:p.Cys225Tyr
NM_001177875.1:c.533G>A	NP_001171346.1:p.Cys178Tyr
NR_130776.1:n.354+36416C>T
NM_000439.5:c.674G>A MANE Select	NP_000430.3:p.Cys225Tyr
NM_001177875.2:c.533G>A	NP_001171346.1:p.Cys178Tyr