Canonical Allele Identifier: CA373690172

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76189673G>T , CM000671.2:g.76189673G>T	GRCh38
NC_000009.11:g.78804589G>T , CM000671.1:g.78804589G>T	GRCh37
NC_000009.10:g.77994409G>T	NCBI36
NG_029445.1:g.304030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376752.9:c.2553G>T	ENSP00000365943.4:p.Lys851Asn
ENST00000674117.1:c.2553G>T MANE Select	ENSP00000500971.1:p.Lys851Asn
ENST00000376752.8:c.2553G>T	ENSP00000365943.4:p.Lys851Asn
ENST00000424854.6:c.1572G>T	ENSP00000411654.1:p.Lys524Asn
ENST00000455778.1:c.210G>T	ENSP00000407239.1:p.Lys70Asn
ENST00000545128.5:c.2553G>T	ENSP00000446280.1:p.Lys851Asn
NM_001190482.1:c.2553G>T	NP_001177411.1:p.Lys851Asn
NM_006200.5:c.2553G>T	NP_006191.2:p.Lys851Asn
NR_120409.1:n.2987G>T
XM_005252039.2:c.2553G>T	XP_005252096.1:p.Lys851Asn
XM_011518769.1:c.2553G>T	XP_011517071.1:p.Lys851Asn
XM_011518770.1:c.1215G>T	XP_011517072.1:p.Lys405Asn
XR_929806.1:n.3049G>T
XR_929807.1:n.3049G>T
XM_005252039.4:c.2553G>T	XP_005252096.1:p.Lys851Asn
XM_011518769.3:c.2553G>T	XP_011517071.1:p.Lys851Asn
XM_011518770.2:c.1215G>T	XP_011517072.1:p.Lys405Asn
XM_017014800.1:c.1242G>T	XP_016870289.1:p.Lys414Asn
XR_929806.2:n.3004G>T
XR_929807.2:n.3004G>T
NM_001372043.1:c.2553G>T MANE Select	NP_001358972.1:p.Lys851Asn
NM_006200.6:c.2553G>T	NP_006191.2:p.Lys851Asn
NR_120409.2:n.2958G>T
NM_001190482.2:c.2553G>T	NP_001177411.1:p.Lys851Asn