Canonical Allele Identifier: CA445496638
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95751780A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416076A>G , CM000667.2:g.96416076A>G GRCh38
NC_000005.9:g.95751780A>G , CM000667.1:g.95751780A>G GRCh37
NC_000005.8:g.95777536A>G NCBI36
NG_021161.1:g.22206T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.666T>C MANE Select ENSP00000308024.2:p.Asn222=
ENST00000311106.7:c.666T>C ENSP00000308024.2:p.Asn222=
ENST00000508626.5:c.525T>C ENSP00000421600.1:p.Asn175=
NM_000439.4:c.666T>C NP_000430.3:p.Asn222=
NM_001177875.1:c.525T>C NP_001171346.1:p.Asn175=
NR_130776.1:n.354+36424A>G
NM_000439.5:c.666T>C MANE Select NP_000430.3:p.Asn222=
NM_001177875.2:c.525T>C NP_001171346.1:p.Asn175=