Canonical Allele Identifier: CA561283449
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1183746361
gnomAD v2: 5-95751692-C-T
gnomAD v4: 5-96415988-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415988C>T , CM000667.2:g.96415988C>T GRCh38
NC_000005.9:g.95751692C>T , CM000667.1:g.95751692C>T GRCh37
NC_000005.8:g.95777448C>T NCBI36
NG_021161.1:g.22294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+45G>A MANE Select ENSP00000308024.2:n.709+45G>A
ENST00000311106.7:c.709+45G>A ENSP00000308024.2:n.709+45G>A
ENST00000508626.5:c.568+45G>A ENSP00000421600.1:n.568+45G>A
NM_000439.4:c.709+45G>A NP_000430.3:n.709+45G>A
NM_001177875.1:c.568+45G>A NP_001171346.1:n.568+45G>A
NR_130776.1:n.354+36336C>T
NM_000439.5:c.709+45G>A MANE Select NP_000430.3:n.709+45G>A
NM_001177875.2:c.568+45G>A NP_001171346.1:n.568+45G>A