Canonical Allele Identifier: CA360485250
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2629613
ClinVar RCV Id: RCV003412255
dbSNP Id: rs1761415135
gnomAD v4: 5-96429265-C-T
COSMIC: COSM1695973
MyVariant Identifiers: chr5:g.95764969C>T (hg19) chr5:g.96429265C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429265C>T , CM000667.2:g.96429265C>T GRCh38
NC_000005.9:g.95764969C>T , CM000667.1:g.95764969C>T GRCh37
NC_000005.8:g.95790725C>T NCBI36
NG_021161.1:g.9017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.233G>A MANE Select ENSP00000308024.2:p.Arg78Lys
ENST00000311106.7:c.233G>A ENSP00000308024.2:p.Arg78Lys
ENST00000508626.5:c.92G>A ENSP00000421600.1:p.Arg31Lys
ENST00000509190.1:c.233G>A ENSP00000427294.1:p.Arg78Lys
NM_000439.4:c.233G>A NP_000430.3:p.Arg78Lys
NM_001177875.1:c.92G>A NP_001171346.1:p.Arg31Lys
NR_130776.1:n.354+49613C>T
NM_000439.5:c.233G>A MANE Select NP_000430.3:p.Arg78Lys
NM_001177875.2:c.92G>A NP_001171346.1:p.Arg31Lys
Search 100 bp 5'
Search 100 bp 3'