Canonical Allele Identifier: CA2601481389
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs929070155
gnomAD v3: 5-96392210-C-T
gnomAD v4: 5-96392210-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392210C>T , CM000667.2:g.96392210C>T GRCh38
NC_000005.9:g.95727914C>T , CM000667.1:g.95727914C>T GRCh37
NC_000005.8:g.95753670C>T NCBI36
NG_021161.1:g.46072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*791G>A MANE Select ENSP00000308024.2:n.*791G>A
ENST00000311106.7:c.*791G>A ENSP00000308024.2:n.*791G>A
NM_000439.4:c.*791G>A NP_000430.3:n.*791G>A
NM_001177875.1:c.*791G>A NP_001171346.1:n.*791G>A
NR_130776.1:n.354+12558C>T
NM_000439.5:c.*791G>A MANE Select NP_000430.3:n.*791G>A
NM_001177875.2:c.*791G>A NP_001171346.1:n.*791G>A
Search 100 bp 5'
Search 100 bp 3'