Canonical Allele Identifier: CA360479086
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1174793701
gnomAD v2: 5-95734693-G-T
gnomAD v3: 5-96398989-G-T
gnomAD v4: 5-96398989-G-T
MyVariant Identifiers: chr5:g.95734693G>T (hg19) chr5:g.96398989G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96398989G>T , CM000667.2:g.96398989G>T GRCh38
NC_000005.9:g.95734693G>T , CM000667.1:g.95734693G>T GRCh37
NC_000005.8:g.95760449G>T NCBI36
NG_021161.1:g.39293C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1478C>A MANE Select ENSP00000308024.2:p.Ala493Asp
ENST00000311106.7:c.1478C>A ENSP00000308024.2:p.Ala493Asp
ENST00000508626.5:c.1337C>A ENSP00000421600.1:p.Ala446Asp
ENST00000513085.1:n.621C>A
NM_000439.4:c.1478C>A NP_000430.3:p.Ala493Asp
NM_001177875.1:c.1337C>A NP_001171346.1:p.Ala446Asp
NR_130776.1:n.354+19337G>T
NM_000439.5:c.1478C>A MANE Select NP_000430.3:p.Ala493Asp
NM_001177875.2:c.1337C>A NP_001171346.1:p.Ala446Asp
Search 100 bp 5'
Search 100 bp 3'