Canonical Allele Identifier: CA5040241

Gene: PIGO

Linked Data

• ClinVar Variation Id: 366753
• ClinVar RCV Id: RCV000421736 ; RCV001080844 ; RCV003392220
• dbSNP Id: rs149439295
• ExAC: 9:35089399 C / T
• gnomAD v2: 9-35089399-C-T
• gnomAD v3: 9-35089402-C-T
• gnomAD v4: 9-35089402-C-T
• MyVariant Identifiers: chr9:g.35089399C>T (hg19) ; chr9:g.35089402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35089402C>T , CM000671.2:g.35089402C>T	GRCh38
NC_000009.11:g.35089399C>T , CM000671.1:g.35089399C>T	GRCh37
NC_000009.10:g.35079399C>T	NCBI36
NG_031990.1:g.12200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.1867G>A	ENSP00000354678.2:p.Val623Ile
ENST00000700254.1:c.1867G>A	ENSP00000514892.1:p.Val623Ile
ENST00000700255.1:c.*2298G>A	ENSP00000514893.1:n.*2298G>A
ENST00000700256.1:n.3950G>A
ENST00000700257.1:c.3118G>A	ENSP00000514894.1:p.Val1040Ile
ENST00000700258.1:n.1109G>A
ENST00000700259.1:c.*681G>A	ENSP00000514895.1:n.*681G>A
ENST00000700260.1:c.1687G>A	ENSP00000514896.1:p.Val563Ile
ENST00000700261.1:c.2125G>A	ENSP00000514897.1:p.Val709Ile
ENST00000700262.1:c.*49G>A	ENSP00000514898.1:n.*49G>A
ENST00000700263.1:c.3072G>A	ENSP00000514899.1:n.3072G>A
ENST00000700264.1:c.*49G>A	ENSP00000514900.1:n.*49G>A
ENST00000378617.4:c.3118G>A MANE Select	ENSP00000367880.3:p.Val1040Ile
ENST00000298004.9:c.1867G>A	ENSP00000298004.5:p.Val623Ile
ENST00000361778.6:c.1867G>A	ENSP00000354678.2:p.Val623Ile
ENST00000378617.3:c.3118G>A	ENSP00000367880.3:p.Val1040Ile
ENST00000465745.6:n.4738G>A
ENST00000474436.1:n.5943G>A
ENST00000491687.1:n.253G>A
NM_001201484.1:c.1867G>A	NP_001188413.1:p.Val623Ile
NM_032634.3:c.3118G>A	NP_116023.2:p.Val1040Ile
NM_152850.3:c.1867G>A	NP_690577.2:p.Val623Ile
XM_005251619.2:c.3118G>A	XP_005251676.1:p.Val1040Ile
XM_011518056.1:c.3118G>A	XP_011516358.1:p.Val1040Ile
XR_242515.1:n.3143G>A
XM_005251619.3:c.3118G>A	XP_005251676.1:p.Val1040Ile
XM_017015222.2:c.3118G>A	XP_016870711.1:p.Val1040Ile
XM_017015223.1:c.1867G>A	XP_016870712.1:p.Val623Ile
XM_017015224.1:c.1867G>A	XP_016870713.1:p.Val623Ile
XR_001746390.1:n.3545G>A
XR_001746391.2:n.1892G>A
XR_242515.3:n.3143G>A
NM_032634.4:c.3118G>A MANE Select	NP_116023.2:p.Val1040Ile
NM_001201484.2:c.1867G>A	NP_001188413.1:p.Val623Ile
NM_152850.4:c.1867G>A	NP_690577.2:p.Val623Ile