Canonical Allele Identifier: CA815887638
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1224709313
gnomAD v4: 5-96416189-A-G
MyVariant Identifiers: chr5:g.95751893A>G (hg19) chr5:g.96416189A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416189A>G , CM000667.2:g.96416189A>G GRCh38
NC_000005.9:g.95751893A>G , CM000667.1:g.95751893A>G GRCh37
NC_000005.8:g.95777649A>G NCBI36
NG_021161.1:g.22093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.621-68T>C MANE Select ENSP00000308024.2:n.621-68T>C
ENST00000311106.7:c.621-68T>C ENSP00000308024.2:n.621-68T>C
ENST00000508626.5:c.480-68T>C ENSP00000421600.1:n.480-68T>C
NM_000439.4:c.621-68T>C NP_000430.3:n.621-68T>C
NM_001177875.1:c.480-68T>C NP_001171346.1:n.480-68T>C
NR_130776.1:n.354+36537A>G
NM_000439.5:c.621-68T>C MANE Select NP_000430.3:n.621-68T>C
NM_001177875.2:c.480-68T>C NP_001171346.1:n.480-68T>C
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