Canonical Allele Identifier: CA122898682
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs531487428
gnomAD v3: 5-96392221-T-C
gnomAD v4: 5-96392221-T-C
MyVariant Identifiers: chr5:g.95727925T>C (hg19) chr5:g.96392221T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392221T>C , CM000667.2:g.96392221T>C GRCh38
NC_000005.9:g.95727925T>C , CM000667.1:g.95727925T>C GRCh37
NC_000005.8:g.95753681T>C NCBI36
NG_021161.1:g.46061A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*780A>G MANE Select ENSP00000308024.2:n.*780A>G
ENST00000311106.7:c.*780A>G ENSP00000308024.2:n.*780A>G
NM_000439.4:c.*780A>G NP_000430.3:n.*780A>G
NM_001177875.1:c.*780A>G NP_001171346.1:n.*780A>G
NR_130776.1:n.354+12569T>C
NM_000439.5:c.*780A>G MANE Select NP_000430.3:n.*780A>G
NM_001177875.2:c.*780A>G NP_001171346.1:n.*780A>G
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