Canonical Allele Identifier: CA3350084
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 354641
ClinVar RCV Id: RCV000298180 RCV000355401 RCV000969200
dbSNP Id: rs6236
ExAC: 5:95729044 C / T
gnomAD v2: 5-95729044-C-T
gnomAD v3: 5-96393340-C-T
gnomAD v4: 5-96393340-C-T
MyVariant Identifiers: chr5:g.95729044C>T (hg19) chr5:g.96393340C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393340C>T , CM000667.2:g.96393340C>T GRCh38
NC_000005.9:g.95729044C>T , CM000667.1:g.95729044C>T GRCh37
NC_000005.8:g.95754800C>T NCBI36
NG_021161.1:g.44942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1923G>A MANE Select ENSP00000308024.2:p.Leu641=
ENST00000311106.7:c.1923G>A ENSP00000308024.2:p.Leu641=
ENST00000508626.5:c.1782G>A ENSP00000421600.1:p.Leu594=
ENST00000513085.1:n.1066G>A
NM_000439.4:c.1923G>A NP_000430.3:p.Leu641=
NM_001177875.1:c.1782G>A NP_001171346.1:p.Leu594=
NR_130776.1:n.354+13688C>T
NM_000439.5:c.1923G>A MANE Select NP_000430.3:p.Leu641=
NM_001177875.2:c.1782G>A NP_001171346.1:p.Leu594=
Search 100 bp 5'
Search 100 bp 3'