Canonical Allele Identifier: CA2601481533
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2112429068
gnomAD v3: 5-96415851-T-C
gnomAD v4: 5-96415851-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415851T>C , CM000667.2:g.96415851T>C GRCh38
NC_000005.9:g.95751555T>C , CM000667.1:g.95751555T>C GRCh37
NC_000005.8:g.95777311T>C NCBI36
NG_021161.1:g.22431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+182A>G MANE Select ENSP00000308024.2:n.709+182A>G
ENST00000311106.7:c.709+182A>G ENSP00000308024.2:n.709+182A>G
ENST00000508626.5:c.568+182A>G ENSP00000421600.1:n.568+182A>G
NM_000439.4:c.709+182A>G NP_000430.3:n.709+182A>G
NM_001177875.1:c.568+182A>G NP_001171346.1:n.568+182A>G
NR_130776.1:n.354+36199T>C
NM_000439.5:c.709+182A>G MANE Select NP_000430.3:n.709+182A>G
NM_001177875.2:c.568+182A>G NP_001171346.1:n.568+182A>G
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