Canonical Allele Identifier: CA2674664193
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96392097-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392097G>T , CM000667.2:g.96392097G>T GRCh38
NC_000005.9:g.95727801G>T , CM000667.1:g.95727801G>T GRCh37
NC_000005.8:g.95753557G>T NCBI36
NG_021161.1:g.46185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*904C>A MANE Select ENSP00000308024.2:n.*904C>A
ENST00000311106.7:c.*904C>A ENSP00000308024.2:n.*904C>A
NM_000439.4:c.*904C>A NP_000430.3:n.*904C>A
NM_001177875.1:c.*904C>A NP_001171346.1:n.*904C>A
NR_130776.1:n.354+12445G>T
NM_000439.5:c.*904C>A MANE Select NP_000430.3:n.*904C>A
NM_001177875.2:c.*904C>A NP_001171346.1:n.*904C>A
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