Canonical Allele Identifier: CA16042782
Gene: PIGO HGNC NCBI

Linked Data

ClinVar Variation Id: 373818
dbSNP Id: rs1057518632
gnomAD v4: 9-35092535-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35092535A>C , CM000671.2:g.35092535A>C GRCh38
NC_000009.11:g.35092532A>C , CM000671.1:g.35092532A>C GRCh37
NC_000009.10:g.35082532A>C NCBI36
NG_031990.1:g.9067T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361778.7:c.1344+8T>G ENSP00000354678.2:n.1344+8T>G
ENST00000700254.1:c.1344+8T>G ENSP00000514892.1:n.1344+8T>G
ENST00000700255.1:c.*532T>G ENSP00000514893.1:n.*532T>G
ENST00000700256.1:n.1384T>G
ENST00000700257.1:c.1352T>G ENSP00000514894.1:p.Met451Arg
ENST00000700259.1:c.1344+8T>G ENSP00000514895.1:n.1344+8T>G
ENST00000700260.1:c.1164+8T>G ENSP00000514896.1:n.1164+8T>G
ENST00000700261.1:c.1352T>G ENSP00000514897.1:p.Met451Arg
ENST00000700262.1:c.1344+8T>G ENSP00000514898.1:n.1344+8T>G
ENST00000700263.1:c.1228T>G ENSP00000514899.1:n.1228T>G
ENST00000700264.1:c.1352T>G ENSP00000514900.1:p.Met451Arg
ENST00000378617.4:c.1352T>G MANE Select ENSP00000367880.3:p.Met451Arg
ENST00000298004.9:c.1344+8T>G ENSP00000298004.5:n.1344+8T>G
ENST00000361778.6:c.1344+8T>G ENSP00000354678.2:n.1344+8T>G
ENST00000378617.3:c.1352T>G ENSP00000367880.3:p.Met451Arg
ENST00000465745.6:n.2353T>G
ENST00000474436.1:n.2810T>G
NM_001201484.1:c.1344+8T>G NP_001188413.1:n.1344+8T>G
NM_032634.3:c.1352T>G NP_116023.2:p.Met451Arg
NM_152850.3:c.1344+8T>G NP_690577.2:n.1344+8T>G
XM_005251619.2:c.1352T>G XP_005251676.1:p.Met451Arg
XM_011518056.1:c.1352T>G XP_011516358.1:p.Met451Arg
XR_242515.1:n.1373T>G
XM_005251619.3:c.1352T>G XP_005251676.1:p.Met451Arg
XM_017015222.2:c.1352T>G XP_016870711.1:p.Met451Arg
XM_017015223.1:c.1344+8T>G XP_016870712.1:n.1344+8T>G
XM_017015224.1:c.1344+8T>G XP_016870713.1:n.1344+8T>G
XR_001746390.1:n.1775T>G
XR_001746391.2:n.1365+8T>G
XR_242515.3:n.1373T>G
NM_032634.4:c.1352T>G MANE Select NP_116023.2:p.Met451Arg
NM_001201484.2:c.1344+8T>G NP_001188413.1:n.1344+8T>G
NM_152850.4:c.1344+8T>G NP_690577.2:n.1344+8T>G