Canonical Allele Identifier: CA5040657

Gene: PIGO

Linked Data

• ClinVar Variation Id: 2069367
• ClinVar RCV Id: RCV002962112
• dbSNP Id: rs145761915
• ExAC: 9:35092550 C / T
• gnomAD v2: 9-35092550-C-T
• gnomAD v4: 9-35092553-C-T
• MyVariant Identifiers: chr9:g.35092550C>T (hg19) ; chr9:g.35092553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092553C>T , CM000671.2:g.35092553C>T	GRCh38
NC_000009.11:g.35092550C>T , CM000671.1:g.35092550C>T	GRCh37
NC_000009.10:g.35082550C>T	NCBI36
NG_031990.1:g.9049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.1334G>A	ENSP00000354678.2:p.Arg445His
ENST00000700254.1:c.1334G>A	ENSP00000514892.1:p.Arg445His
ENST00000700255.1:c.*514G>A	ENSP00000514893.1:n.*514G>A
ENST00000700256.1:n.1366G>A
ENST00000700257.1:c.1334G>A	ENSP00000514894.1:p.Arg445His
ENST00000700259.1:c.1334G>A	ENSP00000514895.1:p.Arg445His
ENST00000700260.1:c.1154G>A	ENSP00000514896.1:p.Arg385His
ENST00000700261.1:c.1334G>A	ENSP00000514897.1:p.Arg445His
ENST00000700262.1:c.1334G>A	ENSP00000514898.1:p.Arg445His
ENST00000700263.1:c.1210G>A	ENSP00000514899.1:n.1210G>A
ENST00000700264.1:c.1334G>A	ENSP00000514900.1:p.Arg445His
ENST00000378617.4:c.1334G>A MANE Select	ENSP00000367880.3:p.Arg445His
ENST00000298004.9:c.1334G>A	ENSP00000298004.5:p.Arg445His
ENST00000361778.6:c.1334G>A	ENSP00000354678.2:p.Arg445His
ENST00000378617.3:c.1334G>A	ENSP00000367880.3:p.Arg445His
ENST00000465745.6:n.2335G>A
ENST00000474436.1:n.2792G>A
NM_001201484.1:c.1334G>A	NP_001188413.1:p.Arg445His
NM_032634.3:c.1334G>A	NP_116023.2:p.Arg445His
NM_152850.3:c.1334G>A	NP_690577.2:p.Arg445His
XM_005251619.2:c.1334G>A	XP_005251676.1:p.Arg445His
XM_011518056.1:c.1334G>A	XP_011516358.1:p.Arg445His
XR_242515.1:n.1355G>A
XM_005251619.3:c.1334G>A	XP_005251676.1:p.Arg445His
XM_017015222.2:c.1334G>A	XP_016870711.1:p.Arg445His
XM_017015223.1:c.1334G>A	XP_016870712.1:p.Arg445His
XM_017015224.1:c.1334G>A	XP_016870713.1:p.Arg445His
XR_001746390.1:n.1757G>A
XR_001746391.2:n.1355G>A
XR_242515.3:n.1355G>A
NM_032634.4:c.1334G>A MANE Select	NP_116023.2:p.Arg445His
NM_001201484.2:c.1334G>A	NP_001188413.1:p.Arg445His
NM_152850.4:c.1334G>A	NP_690577.2:p.Arg445His