Canonical Allele Identifier: CA445496724
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95751795G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416091G>C , CM000667.2:g.96416091G>C GRCh38
NC_000005.9:g.95751795G>C , CM000667.1:g.95751795G>C GRCh37
NC_000005.8:g.95777551G>C NCBI36
NG_021161.1:g.22191C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.651C>G MANE Select ENSP00000308024.2:p.Ala217=
ENST00000311106.7:c.651C>G ENSP00000308024.2:p.Ala217=
ENST00000508626.5:c.510C>G ENSP00000421600.1:p.Ala170=
NM_000439.4:c.651C>G NP_000430.3:p.Ala217=
NM_001177875.1:c.510C>G NP_001171346.1:p.Ala170=
NR_130776.1:n.354+36439G>C
NM_000439.5:c.651C>G MANE Select NP_000430.3:p.Ala217=
NM_001177875.2:c.510C>G NP_001171346.1:p.Ala170=