Canonical Allele Identifier: CA588455074

Gene: PCSK5

Linked Data

• dbSNP Id: rs1324369811
• gnomAD v2: 9-78795243-G-A
• gnomAD v3: 9-76180327-G-A
• gnomAD v4: 9-76180327-G-A
• MyVariant Identifiers: chr9:g.78795243G>A (hg19) ; chr9:g.76180327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76180327G>A , CM000671.2:g.76180327G>A	GRCh38
NC_000009.11:g.78795243G>A , CM000671.1:g.78795243G>A	GRCh37
NC_000009.10:g.77985063G>A	NCBI36
NG_029445.1:g.294684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376752.9:c.2003+629G>A	ENSP00000365943.4:n.2003+629G>A
ENST00000674117.1:c.2003+629G>A MANE Select	ENSP00000500971.1:n.2003+629G>A
ENST00000376752.8:c.2003+629G>A	ENSP00000365943.4:n.2003+629G>A
ENST00000424854.6:c.1022+629G>A	ENSP00000411654.1:n.1022+629G>A
ENST00000545128.5:c.2003+629G>A	ENSP00000446280.1:n.2003+629G>A
NM_001190482.1:c.2003+629G>A	NP_001177411.1:n.2003+629G>A
NM_006200.5:c.2003+629G>A	NP_006191.2:n.2003+629G>A
NR_120409.1:n.2437+629G>A
XM_005252039.2:c.2003+629G>A	XP_005252096.1:n.2003+629G>A
XM_011518769.1:c.2003+629G>A	XP_011517071.1:n.2003+629G>A
XM_011518770.1:c.665+629G>A	XP_011517072.1:n.665+629G>A
XR_929806.1:n.2584+629G>A
XR_929807.1:n.2584+629G>A
XM_005252039.4:c.2003+629G>A	XP_005252096.1:n.2003+629G>A
XM_011518769.3:c.2003+629G>A	XP_011517071.1:n.2003+629G>A
XM_011518770.2:c.665+629G>A	XP_011517072.1:n.665+629G>A
XM_017014800.1:c.692+629G>A	XP_016870289.1:n.692+629G>A
XR_929806.2:n.2539+629G>A
XR_929807.2:n.2539+629G>A
NM_001372043.1:c.2003+629G>A MANE Select	NP_001358972.1:n.2003+629G>A
NM_006200.6:c.2003+629G>A	NP_006191.2:n.2003+629G>A
NR_120409.2:n.2408+629G>A
NM_001190482.2:c.2003+629G>A	NP_001177411.1:n.2003+629G>A