Canonical Allele Identifier: CA2674665228
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96399124-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399124G>C , CM000667.2:g.96399124G>C GRCh38
NC_000005.9:g.95734828G>C , CM000667.1:g.95734828G>C GRCh37
NC_000005.8:g.95760584G>C NCBI36
NG_021161.1:g.39158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1431-88C>G MANE Select ENSP00000308024.2:n.1431-88C>G
ENST00000311106.7:c.1431-88C>G ENSP00000308024.2:n.1431-88C>G
ENST00000508626.5:c.1290-88C>G ENSP00000421600.1:n.1290-88C>G
ENST00000513085.1:n.574-88C>G
NM_000439.4:c.1431-88C>G NP_000430.3:n.1431-88C>G
NM_001177875.1:c.1290-88C>G NP_001171346.1:n.1290-88C>G
NR_130776.1:n.354+19472G>C
NM_000439.5:c.1431-88C>G MANE Select NP_000430.3:n.1431-88C>G
NM_001177875.2:c.1290-88C>G NP_001171346.1:n.1290-88C>G
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