Canonical Allele Identifier: CA2957935430
Community Standard Title: NM_174936.4(PCSK9):c.657+23A>G
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052434A>G , CM000663.2:g.55052434A>G GRCh38
NC_000001.10:g.55518107A>G , CM000663.1:g.55518107A>G GRCh37
NC_000001.9:g.55290695A>G NCBI36
NG_009061.1:g.17888A>G , LRG_275:g.17888A>G

Transcript Alleles

HGVS Amino-acid Change
NM_174936.4:c.657+23A>G MANE Select NP_777596.2:n.657+23A>G
ENST00000302118.5:c.657+23A>G MANE Select ENSP00000303208.5:n.657+23A>G
NM_174936.3:c.657+23A>G , LRG_275t1:c.657+23A>G NP_777596.2:n.657+23A>G
NR_110451.1:n.316+23A>G
NR_110451.2:n.316+23A>G
ENST00000490692.1:n.1478+23A>G
ENST00000673726.1:c.*153+23A>G ENSP00000501004.1:n.*153+23A>G
ENST00000673903.1:c.282+23A>G ENSP00000501257.1:n.282+23A>G
ENST00000673913.2:c.657+23A>G ENSP00000501161.2:n.657+23A>G
ENST00000710286.1:c.1014+23A>G ENSP00000518176.1:n.1014+23A>G