Canonical Allele Identifier: CA122898621
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1037811823
gnomAD v3: 5-96392185-T-G
gnomAD v4: 5-96392185-T-G
MyVariant Identifiers: chr5:g.95727889T>G (hg19) chr5:g.96392185T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392185T>G , CM000667.2:g.96392185T>G GRCh38
NC_000005.9:g.95727889T>G , CM000667.1:g.95727889T>G GRCh37
NC_000005.8:g.95753645T>G NCBI36
NG_021161.1:g.46097A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*816A>C MANE Select ENSP00000308024.2:n.*816A>C
ENST00000311106.7:c.*816A>C ENSP00000308024.2:n.*816A>C
NM_000439.4:c.*816A>C NP_000430.3:n.*816A>C
NM_001177875.1:c.*816A>C NP_001171346.1:n.*816A>C
NR_130776.1:n.354+12533T>G
NM_000439.5:c.*816A>C MANE Select NP_000430.3:n.*816A>C
NM_001177875.2:c.*816A>C NP_001171346.1:n.*816A>C
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