Canonical Allele Identifier: CA2578366403
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429402-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429402T>C , CM000667.2:g.96429402T>C GRCh38
NC_000005.9:g.95765106T>C , CM000667.1:g.95765106T>C GRCh37
NC_000005.8:g.95790862T>C NCBI36
NG_021161.1:g.8880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-85A>G MANE Select ENSP00000308024.2:n.181-85A>G
ENST00000311106.7:c.181-85A>G ENSP00000308024.2:n.181-85A>G
ENST00000508626.5:c.40-85A>G ENSP00000421600.1:n.40-85A>G
ENST00000509190.1:c.181-85A>G ENSP00000427294.1:n.181-85A>G
NM_000439.4:c.181-85A>G NP_000430.3:n.181-85A>G
NM_001177875.1:c.40-85A>G NP_001171346.1:n.40-85A>G
NR_130776.1:n.354+49750T>C
NM_000439.5:c.181-85A>G MANE Select NP_000430.3:n.181-85A>G
NM_001177875.2:c.40-85A>G NP_001171346.1:n.40-85A>G
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