Canonical Allele Identifier: CA3350411
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs761355746
ExAC: 5:95751843 A / T
gnomAD v2: 5-95751843-A-T
gnomAD v3: 5-96416139-A-T
gnomAD v4: 5-96416139-A-T
MyVariant Identifiers: chr5:g.95751843A>T (hg19) chr5:g.96416139A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416139A>T , CM000667.2:g.96416139A>T GRCh38
NC_000005.9:g.95751843A>T , CM000667.1:g.95751843A>T GRCh37
NC_000005.8:g.95777599A>T NCBI36
NG_021161.1:g.22143T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.621-18T>A MANE Select ENSP00000308024.2:n.621-18T>A
ENST00000311106.7:c.621-18T>A ENSP00000308024.2:n.621-18T>A
ENST00000508626.5:c.480-18T>A ENSP00000421600.1:n.480-18T>A
NM_000439.4:c.621-18T>A NP_000430.3:n.621-18T>A
NM_001177875.1:c.480-18T>A NP_001171346.1:n.480-18T>A
NR_130776.1:n.354+36487A>T
NM_000439.5:c.621-18T>A MANE Select NP_000430.3:n.621-18T>A
NM_001177875.2:c.480-18T>A NP_001171346.1:n.480-18T>A
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