Canonical Allele Identifier: CA194299285

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76226485G>A , CM000671.2:g.76226485G>A	GRCh38
NC_000009.11:g.78841401G>A , CM000671.1:g.78841401G>A	GRCh37
NC_000009.10:g.78031221G>A	NCBI36
NG_029445.1:g.340842G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372043.1:c.2627-1018G>A MANE Select	NP_001358972.1:n.2627-1018G>A
ENST00000674117.1:c.2627-1018G>A MANE Select	ENSP00000500971.1:n.2627-1018G>A
NM_001190482.1:c.2627-1018G>A	NP_001177411.1:n.2627-1018G>A
NM_001190482.2:c.2627-1018G>A	NP_001177411.1:n.2627-1018G>A
ENST00000424854.6:c.1646-1018G>A	ENSP00000411654.1:n.1646-1018G>A
ENST00000545128.5:c.2627-1018G>A	ENSP00000446280.1:n.2627-1018G>A
XM_005252039.2:c.2627-1018G>A	XP_005252096.1:n.2627-1018G>A
XM_005252039.4:c.2627-1018G>A	XP_005252096.1:n.2627-1018G>A
XM_011518769.1:c.2627-1018G>A	XP_011517071.1:n.2627-1018G>A
XM_011518769.3:c.2627-1018G>A	XP_011517071.1:n.2627-1018G>A
XM_011518770.1:c.1289-1018G>A	XP_011517072.1:n.1289-1018G>A
XM_011518770.2:c.1289-1018G>A	XP_011517072.1:n.1289-1018G>A
XM_017014800.1:c.1316-1018G>A	XP_016870289.1:n.1316-1018G>A
XR_929807.1:n.3123-1018G>A
XR_929807.2:n.3078-1018G>A
XR_929953.1:n.619+6337C>T