Canonical Allele Identifier: CA340480319

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061458-G-T
• MyVariant Identifiers: chr1:g.55527131G>T (hg19) ; chr1:g.55061458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061458G>T , CM000663.2:g.55061458G>T	GRCh38
NC_000001.10:g.55527131G>T , CM000663.1:g.55527131G>T	GRCh37
NC_000001.9:g.55299719G>T	NCBI36
NG_009061.1:g.26912G>T , LRG_275:g.26912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*105G>T	ENSP00000501161.2:n.*105G>T
ENST00000710286.1:c.2122G>T	ENSP00000518176.1:p.Val708Leu
ENST00000673903.1:c.1390G>T	ENSP00000501257.1:p.Val464Leu
ENST00000673913.1:c.615G>T	ENSP00000501161.1:n.615G>T
ENST00000302118.5:c.1765G>T MANE Select	ENSP00000303208.5:p.Val589Leu
ENST00000490692.1:n.2311G>T
NM_174936.3:c.1765G>T , LRG_275t1:c.1765G>T	NP_777596.2:p.Val589Leu
NR_110451.1:n.1372G>T
XM_011541193.1:c.886G>T	XP_011539495.1:p.Val296Leu
NM_174936.4:c.1765G>T MANE Select	NP_777596.2:p.Val589Leu
NR_110451.2:n.1372G>T