Canonical Allele Identifier: CA373670865

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76157077G>A , CM000671.2:g.76157077G>A	GRCh38
NC_000009.11:g.78771993G>A , CM000671.1:g.78771993G>A	GRCh37
NC_000009.10:g.77961813G>A	NCBI36
NG_029445.1:g.271434G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372043.1:c.1345G>A MANE Select	NP_001358972.1:p.Ala449Thr
ENST00000674117.1:c.1345G>A MANE Select	ENSP00000500971.1:p.Ala449Thr
NM_001190482.1:c.1345G>A	NP_001177411.1:p.Ala449Thr
NM_001190482.2:c.1345G>A	NP_001177411.1:p.Ala449Thr
NM_006200.5:c.1345G>A	NP_006191.2:p.Ala449Thr
NM_006200.6:c.1345G>A	NP_006191.2:p.Ala449Thr
NR_120409.1:n.1779G>A
NR_120409.2:n.1750G>A
ENST00000376752.8:c.1345G>A	ENSP00000365943.4:p.Ala449Thr
ENST00000376752.9:c.1345G>A	ENSP00000365943.4:p.Ala449Thr
ENST00000376767.7:c.1345G>A	ENSP00000365958.3:p.Ala449Thr
ENST00000424854.6:c.364G>A	ENSP00000411654.1:p.Ala122Thr
ENST00000545128.5:c.1345G>A	ENSP00000446280.1:p.Ala449Thr
XM_005252039.2:c.1345G>A	XP_005252096.1:p.Ala449Thr
XM_005252039.4:c.1345G>A	XP_005252096.1:p.Ala449Thr
XM_011518769.1:c.1345G>A	XP_011517071.1:p.Ala449Thr
XM_011518769.3:c.1345G>A	XP_011517071.1:p.Ala449Thr
XM_011518770.1:c.7G>A	XP_011517072.1:p.Ala3Thr
XM_011518770.2:c.7G>A	XP_011517072.1:p.Ala3Thr
XM_017014800.1:c.34G>A	XP_016870289.1:p.Ala12Thr
XR_929806.1:n.1926G>A
XR_929806.2:n.1881G>A
XR_929807.1:n.1926G>A
XR_929807.2:n.1881G>A