Canonical Allele Identifier: CA464603725

Gene: PIGO

Linked Data

• ClinVar Variation Id: 1581569
• ClinVar RCV Id: RCV002088494
• dbSNP Id: rs1348890946
• gnomAD v2: 9-35092440-G-A
• gnomAD v4: 9-35092443-G-A
• MyVariant Identifiers: chr9:g.35092440G>A (hg19) ; chr9:g.35092443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092443G>A , CM000671.2:g.35092443G>A	GRCh38
NC_000009.11:g.35092440G>A , CM000671.1:g.35092440G>A	GRCh37
NC_000009.10:g.35082440G>A	NCBI36
NG_031990.1:g.9159C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361778.7:c.1344+100C>T	ENSP00000354678.2:n.1344+100C>T
ENST00000700254.1:c.1344+100C>T	ENSP00000514892.1:n.1344+100C>T
ENST00000700255.1:c.*624C>T	ENSP00000514893.1:n.*624C>T
ENST00000700256.1:n.1476C>T
ENST00000700257.1:c.1444C>T	ENSP00000514894.1:p.Leu482=
ENST00000700259.1:c.1344+100C>T	ENSP00000514895.1:n.1344+100C>T
ENST00000700260.1:c.1164+100C>T	ENSP00000514896.1:n.1164+100C>T
ENST00000700261.1:c.1360+84C>T	ENSP00000514897.1:n.1360+84C>T
ENST00000700262.1:c.1344+100C>T	ENSP00000514898.1:n.1344+100C>T
ENST00000700263.1:c.1320C>T	ENSP00000514899.1:n.1320C>T
ENST00000700264.1:c.1444C>T	ENSP00000514900.1:p.Leu482=
ENST00000378617.4:c.1444C>T MANE Select	ENSP00000367880.3:p.Leu482=
ENST00000298004.9:c.1344+100C>T	ENSP00000298004.5:n.1344+100C>T
ENST00000361778.6:c.1344+100C>T	ENSP00000354678.2:n.1344+100C>T
ENST00000378617.3:c.1444C>T	ENSP00000367880.3:p.Leu482=
ENST00000465745.6:n.2445C>T
ENST00000474436.1:n.2902C>T
NM_001201484.1:c.1344+100C>T	NP_001188413.1:n.1344+100C>T
NM_032634.3:c.1444C>T	NP_116023.2:p.Leu482=
NM_152850.3:c.1344+100C>T	NP_690577.2:n.1344+100C>T
XM_005251619.2:c.1444C>T	XP_005251676.1:p.Leu482=
XM_011518056.1:c.1444C>T	XP_011516358.1:p.Leu482=
XR_242515.1:n.1465C>T
XM_005251619.3:c.1444C>T	XP_005251676.1:p.Leu482=
XM_017015222.2:c.1444C>T	XP_016870711.1:p.Leu482=
XM_017015223.1:c.1344+100C>T	XP_016870712.1:n.1344+100C>T
XM_017015224.1:c.1344+100C>T	XP_016870713.1:n.1344+100C>T
XR_001746390.1:n.1867C>T
XR_001746391.2:n.1365+100C>T
XR_242515.3:n.1465C>T
NM_032634.4:c.1444C>T MANE Select	NP_116023.2:p.Leu482=
NM_001201484.2:c.1344+100C>T	NP_001188413.1:n.1344+100C>T
NM_152850.4:c.1344+100C>T	NP_690577.2:n.1344+100C>T