Canonical Allele Identifier: CA2674666340
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96415895-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415895A>G , CM000667.2:g.96415895A>G GRCh38
NC_000005.9:g.95751599A>G , CM000667.1:g.95751599A>G GRCh37
NC_000005.8:g.95777355A>G NCBI36
NG_021161.1:g.22387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+138T>C MANE Select ENSP00000308024.2:n.709+138T>C
ENST00000311106.7:c.709+138T>C ENSP00000308024.2:n.709+138T>C
ENST00000508626.5:c.568+138T>C ENSP00000421600.1:n.568+138T>C
NM_000439.4:c.709+138T>C NP_000430.3:n.709+138T>C
NM_001177875.1:c.568+138T>C NP_001171346.1:n.568+138T>C
NR_130776.1:n.354+36243A>G
NM_000439.5:c.709+138T>C MANE Select NP_000430.3:n.709+138T>C
NM_001177875.2:c.568+138T>C NP_001171346.1:n.568+138T>C
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