Canonical Allele Identifier: CA373322812
Gene: PIGO HGNC NCBI

Linked Data

gnomAD v4: 9-35093044-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35093044G>C , CM000671.2:g.35093044G>C GRCh38
NC_000009.11:g.35093041G>C , CM000671.1:g.35093041G>C GRCh37
NC_000009.10:g.35083041G>C NCBI36
NG_031990.1:g.8558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.1105C>G ENSP00000354678.2:p.Leu369Val
ENST00000700254.1:c.1105C>G ENSP00000514892.1:p.Leu369Val
ENST00000700255.1:c.*285C>G ENSP00000514893.1:n.*285C>G
ENST00000700256.1:n.1137C>G
ENST00000700257.1:c.1105C>G ENSP00000514894.1:p.Leu369Val
ENST00000700259.1:c.1105C>G ENSP00000514895.1:p.Leu369Val
ENST00000700260.1:c.940-277C>G ENSP00000514896.1:n.940-277C>G
ENST00000700261.1:c.1105C>G ENSP00000514897.1:p.Leu369Val
ENST00000700262.1:c.1105C>G ENSP00000514898.1:p.Leu369Val
ENST00000700263.1:c.981C>G ENSP00000514899.1:n.981C>G
ENST00000700264.1:c.1105C>G ENSP00000514900.1:p.Leu369Val
ENST00000378617.4:c.1105C>G MANE Select ENSP00000367880.3:p.Leu369Val
ENST00000298004.9:c.1105C>G ENSP00000298004.5:p.Leu369Val
ENST00000361778.6:c.1105C>G ENSP00000354678.2:p.Leu369Val
ENST00000378617.3:c.1105C>G ENSP00000367880.3:p.Leu369Val
ENST00000465745.6:n.1844C>G
ENST00000474436.1:n.2301C>G
NM_001201484.1:c.1105C>G NP_001188413.1:p.Leu369Val
NM_032634.3:c.1105C>G NP_116023.2:p.Leu369Val
NM_152850.3:c.1105C>G NP_690577.2:p.Leu369Val
XM_005251619.2:c.1105C>G XP_005251676.1:p.Leu369Val
XM_011518056.1:c.1105C>G XP_011516358.1:p.Leu369Val
XR_242515.1:n.1126C>G
XM_005251619.3:c.1105C>G XP_005251676.1:p.Leu369Val
XM_017015222.2:c.1105C>G XP_016870711.1:p.Leu369Val
XM_017015223.1:c.1105C>G XP_016870712.1:p.Leu369Val
XM_017015224.1:c.1105C>G XP_016870713.1:p.Leu369Val
XR_001746390.1:n.1528C>G
XR_001746391.2:n.1126C>G
XR_242515.3:n.1126C>G
NM_032634.4:c.1105C>G MANE Select NP_116023.2:p.Leu369Val
NM_001201484.2:c.1105C>G NP_001188413.1:p.Leu369Val
NM_152850.4:c.1105C>G NP_690577.2:p.Leu369Val