Canonical Allele Identifier: CA1565417997

Gene: PCSK1

Linked Data

• dbSNP Id: rs1162201882
• gnomAD v4: 5-96429070-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429070G>A , CM000667.2:g.96429070G>A	GRCh38
NC_000005.9:g.95764774G>A , CM000667.1:g.95764774G>A	GRCh37
NC_000005.8:g.95790530G>A	NCBI36
NG_021161.1:g.9212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+143C>T MANE Select	ENSP00000308024.2:n.285+143C>T
ENST00000311106.7:c.285+143C>T	ENSP00000308024.2:n.285+143C>T
ENST00000508626.5:c.144+143C>T	ENSP00000421600.1:n.144+143C>T
ENST00000509190.1:c.285+143C>T	ENSP00000427294.1:n.285+143C>T
NM_000439.4:c.285+143C>T	NP_000430.3:n.285+143C>T
NM_001177875.1:c.144+143C>T	NP_001171346.1:n.144+143C>T
NR_130776.1:n.354+49418G>A
NM_000439.5:c.285+143C>T MANE Select	NP_000430.3:n.285+143C>T
NM_001177875.2:c.144+143C>T	NP_001171346.1:n.144+143C>T