Canonical Allele Identifier: CA360483083
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416071T>A , CM000667.2:g.96416071T>A GRCh38
NC_000005.9:g.95751775T>A , CM000667.1:g.95751775T>A GRCh37
NC_000005.8:g.95777531T>A NCBI36
NG_021161.1:g.22211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.671A>T MANE Select ENSP00000308024.2:p.Lys224Ile
ENST00000311106.7:c.671A>T ENSP00000308024.2:p.Lys224Ile
ENST00000508626.5:c.530A>T ENSP00000421600.1:p.Lys177Ile
NM_000439.4:c.671A>T NP_000430.3:p.Lys224Ile
NM_001177875.1:c.530A>T NP_001171346.1:p.Lys177Ile
NR_130776.1:n.354+36419T>A
NM_000439.5:c.671A>T MANE Select NP_000430.3:p.Lys224Ile
NM_001177875.2:c.530A>T NP_001171346.1:p.Lys177Ile