Canonical Allele Identifier: CA3350212
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs777992881
ExAC: 5:95734753 A / G
gnomAD v2: 5-95734753-A-G
gnomAD v3: 5-96399049-A-G
gnomAD v4: 5-96399049-A-G
MyVariant Identifiers: chr5:g.95734753A>G (hg19) chr5:g.96399049A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399049A>G , CM000667.2:g.96399049A>G GRCh38
NC_000005.9:g.95734753A>G , CM000667.1:g.95734753A>G GRCh37
NC_000005.8:g.95760509A>G NCBI36
NG_021161.1:g.39233T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1431-13T>C MANE Select ENSP00000308024.2:n.1431-13T>C
ENST00000311106.7:c.1431-13T>C ENSP00000308024.2:n.1431-13T>C
ENST00000508626.5:c.1290-13T>C ENSP00000421600.1:n.1290-13T>C
ENST00000513085.1:n.574-13T>C
NM_000439.4:c.1431-13T>C NP_000430.3:n.1431-13T>C
NM_001177875.1:c.1290-13T>C NP_001171346.1:n.1290-13T>C
NR_130776.1:n.354+19397A>G
NM_000439.5:c.1431-13T>C MANE Select NP_000430.3:n.1431-13T>C
NM_001177875.2:c.1290-13T>C NP_001171346.1:n.1290-13T>C
Search 100 bp 5'
Search 100 bp 3'