Canonical Allele Identifier: CA5040677

Gene: PIGO

Linked Data

• ClinVar Variation Id: 2101029
• ClinVar RCV Id: RCV003014700
• dbSNP Id: rs201781179
• ExAC: 9:35092614 C / T
• gnomAD v3: 9-35092617-C-T
• gnomAD v4: 9-35092617-C-T
• MyVariant Identifiers: chr9:g.35092614C>T (hg19) ; chr9:g.35092617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092617C>T , CM000671.2:g.35092617C>T	GRCh38
NC_000009.11:g.35092614C>T , CM000671.1:g.35092614C>T	GRCh37
NC_000009.10:g.35082614C>T	NCBI36
NG_031990.1:g.8985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.1270G>A	ENSP00000354678.2:p.Val424Met
ENST00000700254.1:c.1270G>A	ENSP00000514892.1:p.Val424Met
ENST00000700255.1:c.*450G>A	ENSP00000514893.1:n.*450G>A
ENST00000700256.1:n.1302G>A
ENST00000700257.1:c.1270G>A	ENSP00000514894.1:p.Val424Met
ENST00000700259.1:c.1270G>A	ENSP00000514895.1:p.Val424Met
ENST00000700260.1:c.1090G>A	ENSP00000514896.1:p.Val364Met
ENST00000700261.1:c.1270G>A	ENSP00000514897.1:p.Val424Met
ENST00000700262.1:c.1270G>A	ENSP00000514898.1:p.Val424Met
ENST00000700263.1:c.1146G>A	ENSP00000514899.1:n.1146G>A
ENST00000700264.1:c.1270G>A	ENSP00000514900.1:p.Val424Met
ENST00000378617.4:c.1270G>A MANE Select	ENSP00000367880.3:p.Val424Met
ENST00000298004.9:c.1270G>A	ENSP00000298004.5:p.Val424Met
ENST00000361778.6:c.1270G>A	ENSP00000354678.2:p.Val424Met
ENST00000378617.3:c.1270G>A	ENSP00000367880.3:p.Val424Met
ENST00000465745.6:n.2271G>A
ENST00000474436.1:n.2728G>A
NM_001201484.1:c.1270G>A	NP_001188413.1:p.Val424Met
NM_032634.3:c.1270G>A	NP_116023.2:p.Val424Met
NM_152850.3:c.1270G>A	NP_690577.2:p.Val424Met
XM_005251619.2:c.1270G>A	XP_005251676.1:p.Val424Met
XM_011518056.1:c.1270G>A	XP_011516358.1:p.Val424Met
XR_242515.1:n.1291G>A
XM_005251619.3:c.1270G>A	XP_005251676.1:p.Val424Met
XM_017015222.2:c.1270G>A	XP_016870711.1:p.Val424Met
XM_017015223.1:c.1270G>A	XP_016870712.1:p.Val424Met
XM_017015224.1:c.1270G>A	XP_016870713.1:p.Val424Met
XR_001746390.1:n.1693G>A
XR_001746391.2:n.1291G>A
XR_242515.3:n.1291G>A
NM_032634.4:c.1270G>A MANE Select	NP_116023.2:p.Val424Met
NM_001201484.2:c.1270G>A	NP_001188413.1:p.Val424Met
NM_152850.4:c.1270G>A	NP_690577.2:p.Val424Met