Canonical Allele Identifier: CA340482742
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039923-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039923G>T , CM000663.2:g.55039923G>T GRCh38
NC_000001.10:g.55505596G>T , CM000663.1:g.55505596G>T GRCh37
NC_000001.9:g.55278184G>T NCBI36
NG_009061.1:g.5377G>T , LRG_275:g.5377G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.86G>T ENSP00000501161.2:p.Arg29Leu
ENST00000710286.1:c.443G>T ENSP00000518176.1:p.Arg148Leu
ENST00000673726.1:c.86G>T ENSP00000501004.1:p.Arg29Leu
ENST00000302118.5:c.86G>T MANE Select ENSP00000303208.5:p.Arg29Leu
NM_174936.3:c.86G>T , LRG_275t1:c.86G>T NP_777596.2:p.Arg29Leu
NM_174936.4:c.86G>T MANE Select NP_777596.2:p.Arg29Leu