Canonical Allele Identifier: CA1565401608
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1759966204
gnomAD v4: 5-96392161-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392161G>T , CM000667.2:g.96392161G>T GRCh38
NC_000005.9:g.95727865G>T , CM000667.1:g.95727865G>T GRCh37
NC_000005.8:g.95753621G>T NCBI36
NG_021161.1:g.46121C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*840C>A MANE Select ENSP00000308024.2:n.*840C>A
ENST00000311106.7:c.*840C>A ENSP00000308024.2:n.*840C>A
NM_000439.4:c.*840C>A NP_000430.3:n.*840C>A
NM_001177875.1:c.*840C>A NP_001171346.1:n.*840C>A
NR_130776.1:n.354+12509G>T
NM_000439.5:c.*840C>A MANE Select NP_000430.3:n.*840C>A
NM_001177875.2:c.*840C>A NP_001171346.1:n.*840C>A
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