Canonical Allele Identifier: CA16618854
Gene: PIGO HGNC NCBI

Linked Data

ClinVar Variation Id: 418410
ClinVar RCV Id: RCV000484721
dbSNP Id: rs1064793230
gnomAD v4: 9-35093028-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35093028A>G , CM000671.2:g.35093028A>G GRCh38
NC_000009.11:g.35093025A>G , CM000671.1:g.35093025A>G GRCh37
NC_000009.10:g.35083025A>G NCBI36
NG_031990.1:g.8574T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361778.7:c.1119+2T>C ENSP00000354678.2:n.1119+2T>C
ENST00000700254.1:c.1119+2T>C ENSP00000514892.1:n.1119+2T>C
ENST00000700255.1:c.*299+2T>C ENSP00000514893.1:n.*299+2T>C
ENST00000700256.1:n.1151+2T>C
ENST00000700257.1:c.1119+2T>C ENSP00000514894.1:n.1119+2T>C
ENST00000700259.1:c.1119+2T>C ENSP00000514895.1:n.1119+2T>C
ENST00000700260.1:c.940-261T>C ENSP00000514896.1:n.940-261T>C
ENST00000700261.1:c.1119+2T>C ENSP00000514897.1:n.1119+2T>C
ENST00000700262.1:c.1119+2T>C ENSP00000514898.1:n.1119+2T>C
ENST00000700263.1:c.995+2T>C ENSP00000514899.1:n.995+2T>C
ENST00000700264.1:c.1119+2T>C ENSP00000514900.1:n.1119+2T>C
ENST00000378617.4:c.1119+2T>C MANE Select ENSP00000367880.3:n.1119+2T>C
ENST00000298004.9:c.1119+2T>C ENSP00000298004.5:n.1119+2T>C
ENST00000361778.6:c.1119+2T>C ENSP00000354678.2:n.1119+2T>C
ENST00000378617.3:c.1119+2T>C ENSP00000367880.3:n.1119+2T>C
ENST00000465745.6:n.1860T>C
ENST00000474436.1:n.2317T>C
NM_001201484.1:c.1119+2T>C NP_001188413.1:n.1119+2T>C
NM_032634.3:c.1119+2T>C NP_116023.2:n.1119+2T>C
NM_152850.3:c.1119+2T>C NP_690577.2:n.1119+2T>C
XM_005251619.2:c.1119+2T>C XP_005251676.1:n.1119+2T>C
XM_011518056.1:c.1119+2T>C XP_011516358.1:n.1119+2T>C
XR_242515.1:n.1140+2T>C
XM_005251619.3:c.1119+2T>C XP_005251676.1:n.1119+2T>C
XM_017015222.2:c.1119+2T>C XP_016870711.1:n.1119+2T>C
XM_017015223.1:c.1119+2T>C XP_016870712.1:n.1119+2T>C
XM_017015224.1:c.1119+2T>C XP_016870713.1:n.1119+2T>C
XR_001746390.1:n.1542+2T>C
XR_001746391.2:n.1140+2T>C
XR_242515.3:n.1140+2T>C
NM_032634.4:c.1119+2T>C MANE Select NP_116023.2:n.1119+2T>C
NM_001201484.2:c.1119+2T>C NP_001188413.1:n.1119+2T>C
NM_152850.4:c.1119+2T>C NP_690577.2:n.1119+2T>C