Canonical Allele Identifier: CA3350407
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs775015522
ExAC: 5:95751799 A / G
gnomAD v2: 5-95751799-A-G
gnomAD v4: 5-96416095-A-G
MyVariant Identifiers: chr5:g.95751799A>G (hg19) chr5:g.96416095A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416095A>G , CM000667.2:g.96416095A>G GRCh38
NC_000005.9:g.95751799A>G , CM000667.1:g.95751799A>G GRCh37
NC_000005.8:g.95777555A>G NCBI36
NG_021161.1:g.22187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.647T>C MANE Select ENSP00000308024.2:p.Ile216Thr
ENST00000311106.7:c.647T>C ENSP00000308024.2:p.Ile216Thr
ENST00000508626.5:c.506T>C ENSP00000421600.1:p.Ile169Thr
NM_000439.4:c.647T>C NP_000430.3:p.Ile216Thr
NM_001177875.1:c.506T>C NP_001171346.1:p.Ile169Thr
NR_130776.1:n.354+36443A>G
NM_000439.5:c.647T>C MANE Select NP_000430.3:p.Ile216Thr
NM_001177875.2:c.506T>C NP_001171346.1:p.Ile169Thr
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