Canonical Allele Identifier: CA2674667173
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429173-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429173A>G , CM000667.2:g.96429173A>G GRCh38
NC_000005.9:g.95764877A>G , CM000667.1:g.95764877A>G GRCh37
NC_000005.8:g.95790633A>G NCBI36
NG_021161.1:g.9109T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311106.8:c.285+40T>C MANE Select ENSP00000308024.2:n.285+40T>C
ENST00000311106.7:c.285+40T>C ENSP00000308024.2:n.285+40T>C
ENST00000508626.5:c.144+40T>C ENSP00000421600.1:n.144+40T>C
ENST00000509190.1:c.285+40T>C ENSP00000427294.1:n.285+40T>C
NM_000439.4:c.285+40T>C NP_000430.3:n.285+40T>C
NM_001177875.1:c.144+40T>C NP_001171346.1:n.144+40T>C
NR_130776.1:n.354+49521A>G
NM_000439.5:c.285+40T>C MANE Select NP_000430.3:n.285+40T>C
NM_001177875.2:c.144+40T>C NP_001171346.1:n.144+40T>C
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