Canonical Allele Identifier: CA373322105

Gene: PIGO

Linked Data

• ClinVar Variation Id: 573741
• ClinVar RCV Id: RCV000695481
• dbSNP Id: rs1563997847
• gnomAD v4: 9-35092445-G-C
• MyVariant Identifiers: chr9:g.35092442G>C (hg19) ; chr9:g.35092445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092445G>C , CM000671.2:g.35092445G>C	GRCh38
NC_000009.11:g.35092442G>C , CM000671.1:g.35092442G>C	GRCh37
NC_000009.10:g.35082442G>C	NCBI36
NG_031990.1:g.9157C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361778.7:c.1344+98C>G	ENSP00000354678.2:n.1344+98C>G
ENST00000700254.1:c.1344+98C>G	ENSP00000514892.1:n.1344+98C>G
ENST00000700255.1:c.*622C>G	ENSP00000514893.1:n.*622C>G
ENST00000700256.1:n.1474C>G
ENST00000700257.1:c.1442C>G	ENSP00000514894.1:p.Pro481Arg
ENST00000700259.1:c.1344+98C>G	ENSP00000514895.1:n.1344+98C>G
ENST00000700260.1:c.1164+98C>G	ENSP00000514896.1:n.1164+98C>G
ENST00000700261.1:c.1360+82C>G	ENSP00000514897.1:n.1360+82C>G
ENST00000700262.1:c.1344+98C>G	ENSP00000514898.1:n.1344+98C>G
ENST00000700263.1:c.1318C>G	ENSP00000514899.1:n.1318C>G
ENST00000700264.1:c.1442C>G	ENSP00000514900.1:p.Pro481Arg
ENST00000378617.4:c.1442C>G MANE Select	ENSP00000367880.3:p.Pro481Arg
ENST00000298004.9:c.1344+98C>G	ENSP00000298004.5:n.1344+98C>G
ENST00000361778.6:c.1344+98C>G	ENSP00000354678.2:n.1344+98C>G
ENST00000378617.3:c.1442C>G	ENSP00000367880.3:p.Pro481Arg
ENST00000465745.6:n.2443C>G
ENST00000474436.1:n.2900C>G
NM_001201484.1:c.1344+98C>G	NP_001188413.1:n.1344+98C>G
NM_032634.3:c.1442C>G	NP_116023.2:p.Pro481Arg
NM_152850.3:c.1344+98C>G	NP_690577.2:n.1344+98C>G
XM_005251619.2:c.1442C>G	XP_005251676.1:p.Pro481Arg
XM_011518056.1:c.1442C>G	XP_011516358.1:p.Pro481Arg
XR_242515.1:n.1463C>G
XM_005251619.3:c.1442C>G	XP_005251676.1:p.Pro481Arg
XM_017015222.2:c.1442C>G	XP_016870711.1:p.Pro481Arg
XM_017015223.1:c.1344+98C>G	XP_016870712.1:n.1344+98C>G
XM_017015224.1:c.1344+98C>G	XP_016870713.1:n.1344+98C>G
XR_001746390.1:n.1865C>G
XR_001746391.2:n.1365+98C>G
XR_242515.3:n.1463C>G
NM_032634.4:c.1442C>G MANE Select	NP_116023.2:p.Pro481Arg
NM_001201484.2:c.1344+98C>G	NP_001188413.1:n.1344+98C>G
NM_152850.4:c.1344+98C>G	NP_690577.2:n.1344+98C>G