Canonical Allele Identifier: CA445719853
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95728951T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393247T>C , CM000667.2:g.96393247T>C GRCh38
NC_000005.9:g.95728951T>C , CM000667.1:g.95728951T>C GRCh37
NC_000005.8:g.95754707T>C NCBI36
NG_021161.1:g.45035A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2016A>G MANE Select ENSP00000308024.2:p.Gln672=
ENST00000311106.7:c.2016A>G ENSP00000308024.2:p.Gln672=
ENST00000508626.5:c.1875A>G ENSP00000421600.1:p.Gln625=
ENST00000513085.1:n.1159A>G
NM_000439.4:c.2016A>G NP_000430.3:p.Gln672=
NM_001177875.1:c.1875A>G NP_001171346.1:p.Gln625=
NR_130776.1:n.354+13595T>C
NM_000439.5:c.2016A>G MANE Select NP_000430.3:p.Gln672=
NM_001177875.2:c.1875A>G NP_001171346.1:p.Gln625=