Canonical Allele Identifier: CA2581533478
Gene: PCSK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415845A>T , CM000667.2:g.96415845A>T GRCh38
NC_000005.9:g.95751549A>T , CM000667.1:g.95751549A>T GRCh37
NC_000005.8:g.95777305A>T NCBI36
NG_021161.1:g.22437T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+188T>A MANE Select ENSP00000308024.2:n.709+188T>A
ENST00000311106.7:c.709+188T>A ENSP00000308024.2:n.709+188T>A
ENST00000508626.5:c.568+188T>A ENSP00000421600.1:n.568+188T>A
NM_000439.4:c.709+188T>A NP_000430.3:n.709+188T>A
NM_001177875.1:c.568+188T>A NP_001171346.1:n.568+188T>A
NR_130776.1:n.354+36193A>T
NM_000439.5:c.709+188T>A MANE Select NP_000430.3:n.709+188T>A
NM_001177875.2:c.568+188T>A NP_001171346.1:n.568+188T>A
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