Canonical Allele Identifier: CA3350406
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs202203086
ExAC: 5:95751796 G / A
gnomAD v2: 5-95751796-G-A
gnomAD v3: 5-96416092-G-A
gnomAD v4: 5-96416092-G-A
MyVariant Identifiers: chr5:g.95751796G>A (hg19) chr5:g.96416092G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416092G>A , CM000667.2:g.96416092G>A GRCh38
NC_000005.9:g.95751796G>A , CM000667.1:g.95751796G>A GRCh37
NC_000005.8:g.95777552G>A NCBI36
NG_021161.1:g.22190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.650C>T MANE Select ENSP00000308024.2:p.Ala217Val
ENST00000311106.7:c.650C>T ENSP00000308024.2:p.Ala217Val
ENST00000508626.5:c.509C>T ENSP00000421600.1:p.Ala170Val
NM_000439.4:c.650C>T NP_000430.3:p.Ala217Val
NM_001177875.1:c.509C>T NP_001171346.1:p.Ala170Val
NR_130776.1:n.354+36440G>A
NM_000439.5:c.650C>T MANE Select NP_000430.3:p.Ala217Val
NM_001177875.2:c.509C>T NP_001171346.1:p.Ala170Val
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