Canonical Allele Identifier: CA360483024
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416057C>G , CM000667.2:g.96416057C>G GRCh38
NC_000005.9:g.95751761C>G , CM000667.1:g.95751761C>G GRCh37
NC_000005.8:g.95777517C>G NCBI36
NG_021161.1:g.22225G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.685G>C MANE Select ENSP00000308024.2:p.Val229Leu
ENST00000311106.7:c.685G>C ENSP00000308024.2:p.Val229Leu
ENST00000508626.5:c.544G>C ENSP00000421600.1:p.Val182Leu
NM_000439.4:c.685G>C NP_000430.3:p.Val229Leu
NM_001177875.1:c.544G>C NP_001171346.1:p.Val182Leu
NR_130776.1:n.354+36405C>G
NM_000439.5:c.685G>C MANE Select NP_000430.3:p.Val229Leu
NM_001177875.2:c.544G>C NP_001171346.1:p.Val182Leu