Canonical Allele Identifier: CA445496766
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95751807T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416103T>G , CM000667.2:g.96416103T>G GRCh38
NC_000005.9:g.95751807T>G , CM000667.1:g.95751807T>G GRCh37
NC_000005.8:g.95777563T>G NCBI36
NG_021161.1:g.22179A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.639A>C MANE Select ENSP00000308024.2:p.Ala213=
ENST00000311106.7:c.639A>C ENSP00000308024.2:p.Ala213=
ENST00000508626.5:c.498A>C ENSP00000421600.1:p.Ala166=
NM_000439.4:c.639A>C NP_000430.3:p.Ala213=
NM_001177875.1:c.498A>C NP_001171346.1:p.Ala166=
NR_130776.1:n.354+36451T>G
NM_000439.5:c.639A>C MANE Select NP_000430.3:p.Ala213=
NM_001177875.2:c.498A>C NP_001171346.1:p.Ala166=