Canonical Allele Identifier: CA360476899
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96393192-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393192C>A , CM000667.2:g.96393192C>A GRCh38
NC_000005.9:g.95728896C>A , CM000667.1:g.95728896C>A GRCh37
NC_000005.8:g.95754652C>A NCBI36
NG_021161.1:g.45090G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2071G>T MANE Select ENSP00000308024.2:p.Ala691Ser
ENST00000311106.7:c.2071G>T ENSP00000308024.2:p.Ala691Ser
ENST00000508626.5:c.1930G>T ENSP00000421600.1:p.Ala644Ser
ENST00000513085.1:n.1214G>T
NM_000439.4:c.2071G>T NP_000430.3:p.Ala691Ser
NM_001177875.1:c.1930G>T NP_001171346.1:p.Ala644Ser
NR_130776.1:n.354+13540C>A
NM_000439.5:c.2071G>T MANE Select NP_000430.3:p.Ala691Ser
NM_001177875.2:c.1930G>T NP_001171346.1:p.Ala644Ser