Canonical Allele Identifier: CA373324738
Community Standard Title: NM_032634.4(PIGO):c.217G>C (p.Val73Leu)
Gene: PIGO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35095349C>G , CM000671.2:g.35095349C>G GRCh38
NC_000009.11:g.35095346C>G , CM000671.1:g.35095346C>G GRCh37
NC_000009.10:g.35085346C>G NCBI36
NG_031990.1:g.6253G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032634.4:c.217G>C MANE Select NP_116023.2:p.Val73Leu
ENST00000378617.4:c.217G>C MANE Select ENSP00000367880.3:p.Val73Leu
NM_001201484.1:c.217G>C NP_001188413.1:p.Val73Leu
NM_001201484.2:c.217G>C NP_001188413.1:p.Val73Leu
NM_032634.3:c.217G>C NP_116023.2:p.Val73Leu
NM_152850.3:c.217G>C NP_690577.2:p.Val73Leu
NM_152850.4:c.217G>C NP_690577.2:p.Val73Leu
ENST00000298004.9:c.217G>C ENSP00000298004.5:p.Val73Leu
ENST00000361778.6:c.217G>C ENSP00000354678.2:p.Val73Leu
ENST00000361778.7:c.217G>C ENSP00000354678.2:p.Val73Leu
ENST00000378617.3:c.217G>C ENSP00000367880.3:p.Val73Leu
ENST00000465745.6:n.234G>C
ENST00000472208.1:n.318G>C
ENST00000474436.1:n.1202G>C
ENST00000492770.1:n.578G>C
ENST00000700254.1:c.217G>C ENSP00000514892.1:p.Val73Leu
ENST00000700255.1:c.217G>C ENSP00000514893.1:p.Val73Leu
ENST00000700256.1:n.249G>C
ENST00000700257.1:c.217G>C ENSP00000514894.1:p.Val73Leu
ENST00000700259.1:c.217G>C ENSP00000514895.1:p.Val73Leu
ENST00000700260.1:c.217G>C ENSP00000514896.1:p.Val73Leu
ENST00000700261.1:c.217G>C ENSP00000514897.1:p.Val73Leu
ENST00000700262.1:c.217G>C ENSP00000514898.1:p.Val73Leu
ENST00000700263.1:c.217G>C ENSP00000514899.1:p.Val73Leu
ENST00000700264.1:c.217G>C ENSP00000514900.1:p.Val73Leu
XM_005251619.2:c.217G>C XP_005251676.1:p.Val73Leu
XM_005251619.3:c.217G>C XP_005251676.1:p.Val73Leu
XM_011518056.1:c.217G>C XP_011516358.1:p.Val73Leu
XM_017015222.2:c.217G>C XP_016870711.1:p.Val73Leu
XM_017015223.1:c.217G>C XP_016870712.1:p.Val73Leu
XM_017015224.1:c.217G>C XP_016870713.1:p.Val73Leu
XR_001746390.1:n.640G>C
XR_001746391.2:n.238G>C
XR_242515.1:n.238G>C
XR_242515.3:n.238G>C