Canonical Allele Identifier: CA2739300568
Gene: PCSK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.76180297C>A , CM000671.2:g.76180297C>A GRCh38
NC_000009.11:g.78795213C>A , CM000671.1:g.78795213C>A GRCh37
NC_000009.10:g.77985033C>A NCBI36
NG_029445.1:g.294654C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376752.9:c.2003+599C>A ENSP00000365943.4:n.2003+599C>A
ENST00000674117.1:c.2003+599C>A MANE Select ENSP00000500971.1:n.2003+599C>A
ENST00000376752.8:c.2003+599C>A ENSP00000365943.4:n.2003+599C>A
ENST00000424854.6:c.1022+599C>A ENSP00000411654.1:n.1022+599C>A
ENST00000545128.5:c.2003+599C>A ENSP00000446280.1:n.2003+599C>A
NM_001190482.1:c.2003+599C>A NP_001177411.1:n.2003+599C>A
NM_006200.5:c.2003+599C>A NP_006191.2:n.2003+599C>A
NR_120409.1:n.2437+599C>A
XM_005252039.2:c.2003+599C>A XP_005252096.1:n.2003+599C>A
XM_011518769.1:c.2003+599C>A XP_011517071.1:n.2003+599C>A
XM_011518770.1:c.665+599C>A XP_011517072.1:n.665+599C>A
XR_929806.1:n.2584+599C>A
XR_929807.1:n.2584+599C>A
XM_005252039.4:c.2003+599C>A XP_005252096.1:n.2003+599C>A
XM_011518769.3:c.2003+599C>A XP_011517071.1:n.2003+599C>A
XM_011518770.2:c.665+599C>A XP_011517072.1:n.665+599C>A
XM_017014800.1:c.692+599C>A XP_016870289.1:n.692+599C>A
XR_929806.2:n.2539+599C>A
XR_929807.2:n.2539+599C>A
NM_001372043.1:c.2003+599C>A MANE Select NP_001358972.1:n.2003+599C>A
NM_006200.6:c.2003+599C>A NP_006191.2:n.2003+599C>A
NR_120409.2:n.2408+599C>A
NM_001190482.2:c.2003+599C>A NP_001177411.1:n.2003+599C>A