Canonical Allele Identifier: CA1125639282

Gene: PCSK5

Linked Data

• dbSNP Id: rs1823806249
• gnomAD v3: 9-76180303-C-T
• gnomAD v4: 9-76180303-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76180303C>T , CM000671.2:g.76180303C>T	GRCh38
NC_000009.11:g.78795219C>T , CM000671.1:g.78795219C>T	GRCh37
NC_000009.10:g.77985039C>T	NCBI36
NG_029445.1:g.294660C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376752.9:c.2003+605C>T	ENSP00000365943.4:n.2003+605C>T
ENST00000674117.1:c.2003+605C>T MANE Select	ENSP00000500971.1:n.2003+605C>T
ENST00000376752.8:c.2003+605C>T	ENSP00000365943.4:n.2003+605C>T
ENST00000424854.6:c.1022+605C>T	ENSP00000411654.1:n.1022+605C>T
ENST00000545128.5:c.2003+605C>T	ENSP00000446280.1:n.2003+605C>T
NM_001190482.1:c.2003+605C>T	NP_001177411.1:n.2003+605C>T
NM_006200.5:c.2003+605C>T	NP_006191.2:n.2003+605C>T
NR_120409.1:n.2437+605C>T
XM_005252039.2:c.2003+605C>T	XP_005252096.1:n.2003+605C>T
XM_011518769.1:c.2003+605C>T	XP_011517071.1:n.2003+605C>T
XM_011518770.1:c.665+605C>T	XP_011517072.1:n.665+605C>T
XR_929806.1:n.2584+605C>T
XR_929807.1:n.2584+605C>T
XM_005252039.4:c.2003+605C>T	XP_005252096.1:n.2003+605C>T
XM_011518769.3:c.2003+605C>T	XP_011517071.1:n.2003+605C>T
XM_011518770.2:c.665+605C>T	XP_011517072.1:n.665+605C>T
XM_017014800.1:c.692+605C>T	XP_016870289.1:n.692+605C>T
XR_929806.2:n.2539+605C>T
XR_929807.2:n.2539+605C>T
NM_001372043.1:c.2003+605C>T MANE Select	NP_001358972.1:n.2003+605C>T
NM_006200.6:c.2003+605C>T	NP_006191.2:n.2003+605C>T
NR_120409.2:n.2408+605C>T
NM_001190482.2:c.2003+605C>T	NP_001177411.1:n.2003+605C>T