Canonical Allele Identifier: CA360476956
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1161562062
gnomAD v2: 5-95728922-T-C
gnomAD v3: 5-96393218-T-C
gnomAD v4: 5-96393218-T-C
MyVariant Identifiers: chr5:g.95728922T>C (hg19) chr5:g.96393218T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393218T>C , CM000667.2:g.96393218T>C GRCh38
NC_000005.9:g.95728922T>C , CM000667.1:g.95728922T>C GRCh37
NC_000005.8:g.95754678T>C NCBI36
NG_021161.1:g.45064A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2045A>G MANE Select ENSP00000308024.2:p.Lys682Arg
ENST00000311106.7:c.2045A>G ENSP00000308024.2:p.Lys682Arg
ENST00000508626.5:c.1904A>G ENSP00000421600.1:p.Lys635Arg
ENST00000513085.1:n.1188A>G
NM_000439.4:c.2045A>G NP_000430.3:p.Lys682Arg
NM_001177875.1:c.1904A>G NP_001171346.1:p.Lys635Arg
NR_130776.1:n.354+13566T>C
NM_000439.5:c.2045A>G MANE Select NP_000430.3:p.Lys682Arg
NM_001177875.2:c.1904A>G NP_001171346.1:p.Lys635Arg
Search 100 bp 5'
Search 100 bp 3'