Canonical Allele Identifier: CA3350557
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs756287752
gnomAD v2: 5-95765014-G-A
gnomAD v4: 5-96429310-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429310G>A , CM000667.2:g.96429310G>A GRCh38
NC_000005.9:g.95765014G>A , CM000667.1:g.95765014G>A GRCh37
NC_000005.8:g.95790770G>A NCBI36
NG_021161.1:g.8972C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.188C>T MANE Select ENSP00000308024.2:p.Ser63Leu
ENST00000311106.7:c.188C>T ENSP00000308024.2:p.Ser63Leu
ENST00000508626.5:c.47C>T ENSP00000421600.1:p.Ser16Leu
ENST00000509190.1:c.188C>T ENSP00000427294.1:p.Ser63Leu
NM_000439.4:c.188C>T NP_000430.3:p.Ser63Leu
NM_001177875.1:c.47C>T NP_001171346.1:p.Ser16Leu
NR_130776.1:n.354+49658G>A
NM_000439.5:c.188C>T MANE Select NP_000430.3:p.Ser63Leu
NM_001177875.2:c.47C>T NP_001171346.1:p.Ser16Leu