Canonical Allele Identifier: CA1565417995
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1761406929
gnomAD v4: 5-96429067-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429067A>G , CM000667.2:g.96429067A>G GRCh38
NC_000005.9:g.95764771A>G , CM000667.1:g.95764771A>G GRCh37
NC_000005.8:g.95790527A>G NCBI36
NG_021161.1:g.9215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+146T>C MANE Select ENSP00000308024.2:n.285+146T>C
ENST00000311106.7:c.285+146T>C ENSP00000308024.2:n.285+146T>C
ENST00000508626.5:c.144+146T>C ENSP00000421600.1:n.144+146T>C
ENST00000509190.1:c.285+146T>C ENSP00000427294.1:n.285+146T>C
NM_000439.4:c.285+146T>C NP_000430.3:n.285+146T>C
NM_001177875.1:c.144+146T>C NP_001171346.1:n.144+146T>C
NR_130776.1:n.354+49415A>G
NM_000439.5:c.285+146T>C MANE Select NP_000430.3:n.285+146T>C
NM_001177875.2:c.144+146T>C NP_001171346.1:n.144+146T>C
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