Canonical Allele Identifier: CA5040894
Gene: PIGO HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35094272T>C , CM000671.2:g.35094272T>C GRCh38
NC_000009.11:g.35094269T>C , CM000671.1:g.35094269T>C GRCh37
NC_000009.10:g.35084269T>C NCBI36
NG_031990.1:g.7330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.599A>G ENSP00000354678.2:p.Asn200Ser
ENST00000700254.1:c.599A>G ENSP00000514892.1:p.Asn200Ser
ENST00000700255.1:c.599A>G ENSP00000514893.1:p.Asn200Ser
ENST00000700256.1:n.631A>G
ENST00000700257.1:c.599A>G ENSP00000514894.1:p.Asn200Ser
ENST00000700259.1:c.599A>G ENSP00000514895.1:p.Asn200Ser
ENST00000700260.1:c.599A>G ENSP00000514896.1:p.Asn200Ser
ENST00000700261.1:c.599A>G ENSP00000514897.1:p.Asn200Ser
ENST00000700262.1:c.599A>G ENSP00000514898.1:p.Asn200Ser
ENST00000700263.1:c.599A>G ENSP00000514899.1:p.Asn200Ser
ENST00000700264.1:c.599A>G ENSP00000514900.1:p.Asn200Ser
ENST00000378617.4:c.599A>G MANE Select ENSP00000367880.3:p.Asn200Ser
ENST00000298004.9:c.599A>G ENSP00000298004.5:p.Asn200Ser
ENST00000361778.6:c.599A>G ENSP00000354678.2:p.Asn200Ser
ENST00000378617.3:c.599A>G ENSP00000367880.3:p.Asn200Ser
ENST00000465745.6:n.616A>G
ENST00000472208.1:n.700A>G
ENST00000474436.1:n.1584A>G
NM_001201484.1:c.599A>G NP_001188413.1:p.Asn200Ser
NM_032634.3:c.599A>G NP_116023.2:p.Asn200Ser
NM_152850.3:c.599A>G NP_690577.2:p.Asn200Ser
XM_005251619.2:c.599A>G XP_005251676.1:p.Asn200Ser
XM_011518056.1:c.599A>G XP_011516358.1:p.Asn200Ser
XR_242515.1:n.620A>G
XM_005251619.3:c.599A>G XP_005251676.1:p.Asn200Ser
XM_017015222.2:c.599A>G XP_016870711.1:p.Asn200Ser
XM_017015223.1:c.599A>G XP_016870712.1:p.Asn200Ser
XM_017015224.1:c.599A>G XP_016870713.1:p.Asn200Ser
XR_001746390.1:n.1022A>G
XR_001746391.2:n.620A>G
XR_242515.3:n.620A>G
NM_032634.4:c.599A>G MANE Select NP_116023.2:p.Asn200Ser
NM_001201484.2:c.599A>G NP_001188413.1:p.Asn200Ser
NM_152850.4:c.599A>G NP_690577.2:p.Asn200Ser