Canonical Allele Identifier: CA194313763

Gene: PCSK5

Linked Data

• dbSNP Id: rs540857500
• gnomAD v3: 9-76180338-C-A
• gnomAD v4: 9-76180338-C-A
• MyVariant Identifiers: chr9:g.78795254C>A (hg19) ; chr9:g.76180338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76180338C>A , CM000671.2:g.76180338C>A	GRCh38
NC_000009.11:g.78795254C>A , CM000671.1:g.78795254C>A	GRCh37
NC_000009.10:g.77985074C>A	NCBI36
NG_029445.1:g.294695C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376752.9:c.2003+640C>A	ENSP00000365943.4:n.2003+640C>A
ENST00000674117.1:c.2003+640C>A MANE Select	ENSP00000500971.1:n.2003+640C>A
ENST00000376752.8:c.2003+640C>A	ENSP00000365943.4:n.2003+640C>A
ENST00000424854.6:c.1022+640C>A	ENSP00000411654.1:n.1022+640C>A
ENST00000545128.5:c.2003+640C>A	ENSP00000446280.1:n.2003+640C>A
NM_001190482.1:c.2003+640C>A	NP_001177411.1:n.2003+640C>A
NM_006200.5:c.2003+640C>A	NP_006191.2:n.2003+640C>A
NR_120409.1:n.2437+640C>A
XM_005252039.2:c.2003+640C>A	XP_005252096.1:n.2003+640C>A
XM_011518769.1:c.2003+640C>A	XP_011517071.1:n.2003+640C>A
XM_011518770.1:c.665+640C>A	XP_011517072.1:n.665+640C>A
XR_929806.1:n.2584+640C>A
XR_929807.1:n.2584+640C>A
XM_005252039.4:c.2003+640C>A	XP_005252096.1:n.2003+640C>A
XM_011518769.3:c.2003+640C>A	XP_011517071.1:n.2003+640C>A
XM_011518770.2:c.665+640C>A	XP_011517072.1:n.665+640C>A
XM_017014800.1:c.692+640C>A	XP_016870289.1:n.692+640C>A
XR_929806.2:n.2539+640C>A
XR_929807.2:n.2539+640C>A
NM_001372043.1:c.2003+640C>A MANE Select	NP_001358972.1:n.2003+640C>A
NM_006200.6:c.2003+640C>A	NP_006191.2:n.2003+640C>A
NR_120409.2:n.2408+640C>A
NM_001190482.2:c.2003+640C>A	NP_001177411.1:n.2003+640C>A