Canonical Allele Identifier: CA3350397
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs190056821
ExAC: 5:95751705 T / C
gnomAD v2: 5-95751705-T-C
gnomAD v3: 5-96416001-T-C
gnomAD v4: 5-96416001-T-C
MyVariant Identifiers: chr5:g.95751705T>C (hg19) chr5:g.96416001T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416001T>C , CM000667.2:g.96416001T>C GRCh38
NC_000005.9:g.95751705T>C , CM000667.1:g.95751705T>C GRCh37
NC_000005.8:g.95777461T>C NCBI36
NG_021161.1:g.22281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+32A>G MANE Select ENSP00000308024.2:n.709+32A>G
ENST00000311106.7:c.709+32A>G ENSP00000308024.2:n.709+32A>G
ENST00000508626.5:c.568+32A>G ENSP00000421600.1:n.568+32A>G
NM_000439.4:c.709+32A>G NP_000430.3:n.709+32A>G
NM_001177875.1:c.568+32A>G NP_001171346.1:n.568+32A>G
NR_130776.1:n.354+36349T>C
NM_000439.5:c.709+32A>G MANE Select NP_000430.3:n.709+32A>G
NM_001177875.2:c.568+32A>G NP_001171346.1:n.568+32A>G
Search 100 bp 5'
Search 100 bp 3'