Canonical Allele Identifier: CA360485372

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429317-T-C
• MyVariant Identifiers: chr5:g.95765021T>C (hg19) ; chr5:g.96429317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429317T>C , CM000667.2:g.96429317T>C	GRCh38
NC_000005.9:g.95765021T>C , CM000667.1:g.95765021T>C	GRCh37
NC_000005.8:g.95790777T>C	NCBI36
NG_021161.1:g.8965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181A>G MANE Select	ENSP00000308024.2:p.Ile61Val
ENST00000311106.7:c.181A>G	ENSP00000308024.2:p.Ile61Val
ENST00000508626.5:c.40A>G	ENSP00000421600.1:p.Ile14Val
ENST00000509190.1:c.181A>G	ENSP00000427294.1:p.Ile61Val
NM_000439.4:c.181A>G	NP_000430.3:p.Ile61Val
NM_001177875.1:c.40A>G	NP_001171346.1:p.Ile14Val
NR_130776.1:n.354+49665T>C
NM_000439.5:c.181A>G MANE Select	NP_000430.3:p.Ile61Val
NM_001177875.2:c.40A>G	NP_001171346.1:p.Ile14Val