Canonical Allele Identifier: CA360477103
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393287T>G , CM000667.2:g.96393287T>G GRCh38
NC_000005.9:g.95728991T>G , CM000667.1:g.95728991T>G GRCh37
NC_000005.8:g.95754747T>G NCBI36
NG_021161.1:g.44995A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1976A>C MANE Select ENSP00000308024.2:p.Glu659Ala
ENST00000311106.7:c.1976A>C ENSP00000308024.2:p.Glu659Ala
ENST00000508626.5:c.1835A>C ENSP00000421600.1:p.Glu612Ala
ENST00000513085.1:n.1119A>C
NM_000439.4:c.1976A>C NP_000430.3:p.Glu659Ala
NM_001177875.1:c.1835A>C NP_001171346.1:p.Glu612Ala
NR_130776.1:n.354+13635T>G
NM_000439.5:c.1976A>C MANE Select NP_000430.3:p.Glu659Ala
NM_001177875.2:c.1835A>C NP_001171346.1:p.Glu612Ala