Canonical Allele Identifier: CA1565417972
Gene: PCSK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429035T= , CM000667.2:g.96429035T= GRCh38
NC_000005.9:g.95764739T= , CM000667.1:g.95764739T= GRCh37
NC_000005.8:g.95790495T= NCBI36
NG_021161.1:g.9247A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+178A= MANE Select ENSP00000308024.2:n.285+178A=
ENST00000311106.7:c.285+178A= ENSP00000308024.2:n.285+178A=
ENST00000508626.5:c.144+178A= ENSP00000421600.1:n.144+178A=
ENST00000509190.1:c.285+178A= ENSP00000427294.1:n.285+178A=
NM_000439.4:c.285+178A= NP_000430.3:n.285+178A=
NM_001177875.1:c.144+178A= NP_001171346.1:n.144+178A=
NR_130776.1:n.354+49383T=
NM_000439.5:c.285+178A= MANE Select NP_000430.3:n.285+178A=
NM_001177875.2:c.144+178A= NP_001171346.1:n.144+178A=
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