Canonical Allele Identifier: CA2645840417
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55058469-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55058469C>T , CM000663.2:g.55058469C>T GRCh38
NC_000001.10:g.55524142C>T , CM000663.1:g.55524142C>T GRCh37
NC_000001.9:g.55296730C>T NCBI36
NG_009061.1:g.23923C>T , LRG_275:g.23923C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.1355-30C>T ENSP00000501161.2:n.1355-30C>T
ENST00000710286.1:c.1712-30C>T ENSP00000518176.1:n.1712-30C>T
ENST00000673903.1:c.980-30C>T ENSP00000501257.1:n.980-30C>T
ENST00000673913.1:c.95-30C>T ENSP00000501161.1:n.95-30C>T
ENST00000302118.5:c.1355-30C>T MANE Select ENSP00000303208.5:n.1355-30C>T
ENST00000490692.1:n.2079-30C>T
NM_174936.3:c.1355-30C>T , LRG_275t1:c.1355-30C>T NP_777596.2:n.1355-30C>T
NR_110451.1:n.962-30C>T
XM_011541193.1:c.476-30C>T XP_011539495.1:n.476-30C>T
NM_174936.4:c.1355-30C>T MANE Select NP_777596.2:n.1355-30C>T
NR_110451.2:n.962-30C>T