Canonical Allele Identifier: CA1079027007
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1759968409
gnomAD v3: 5-96392206-A-T
gnomAD v4: 5-96392206-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392206A>T , CM000667.2:g.96392206A>T GRCh38
NC_000005.9:g.95727910A>T , CM000667.1:g.95727910A>T GRCh37
NC_000005.8:g.95753666A>T NCBI36
NG_021161.1:g.46076T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*795T>A MANE Select ENSP00000308024.2:n.*795T>A
ENST00000311106.7:c.*795T>A ENSP00000308024.2:n.*795T>A
NM_000439.4:c.*795T>A NP_000430.3:n.*795T>A
NM_001177875.1:c.*795T>A NP_001171346.1:n.*795T>A
NR_130776.1:n.354+12554A>T
NM_000439.5:c.*795T>A MANE Select NP_000430.3:n.*795T>A
NM_001177875.2:c.*795T>A NP_001171346.1:n.*795T>A
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