Canonical Allele Identifier: CA2695880102
Community Standard Title: NM_174936.4(PCSK9):c.1864-73G>C
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063296G>C , CM000663.2:g.55063296G>C GRCh38
NC_000001.10:g.55528969G>C , CM000663.1:g.55528969G>C GRCh37
NC_000001.9:g.55301557G>C NCBI36
NG_009061.1:g.28750G>C , LRG_275:g.28750G>C

Transcript Alleles

HGVS Amino-acid Change
NM_174936.4:c.1864-73G>C MANE Select NP_777596.2:n.1864-73G>C
ENST00000302118.5:c.1864-73G>C MANE Select ENSP00000303208.5:n.1864-73G>C
NM_174936.3:c.1864-73G>C , LRG_275t1:c.1864-73G>C NP_777596.2:n.1864-73G>C
NR_110451.1:n.1471-73G>C
NR_110451.2:n.1471-73G>C
ENST00000490692.1:n.2410-73G>C
ENST00000673903.1:c.1489-73G>C ENSP00000501257.1:n.1489-73G>C
ENST00000673913.1:c.714-73G>C ENSP00000501161.1:n.714-73G>C
ENST00000673913.2:c.*204-73G>C ENSP00000501161.2:n.*204-73G>C
ENST00000710286.1:c.2221-73G>C ENSP00000518176.1:n.2221-73G>C
XM_011541193.1:c.985-73G>C XP_011539495.1:n.985-73G>C