Canonical Allele Identifier: CA373318122

Gene: PIGO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35090505C>G , CM000671.2:g.35090505C>G	GRCh38
NC_000009.11:g.35090502C>G , CM000671.1:g.35090502C>G	GRCh37
NC_000009.10:g.35080502C>G	NCBI36
NG_031990.1:g.11097G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032634.4:c.2815G>C MANE Select	NP_116023.2:p.Val939Leu
ENST00000378617.4:c.2815G>C MANE Select	ENSP00000367880.3:p.Val939Leu
NM_001201484.1:c.1564G>C	NP_001188413.1:p.Val522Leu
NM_001201484.2:c.1564G>C	NP_001188413.1:p.Val522Leu
NM_032634.3:c.2815G>C	NP_116023.2:p.Val939Leu
NM_152850.3:c.1564G>C	NP_690577.2:p.Val522Leu
NM_152850.4:c.1564G>C	NP_690577.2:p.Val522Leu
ENST00000298004.9:c.1564G>C	ENSP00000298004.5:p.Val522Leu
ENST00000361778.6:c.1564G>C	ENSP00000354678.2:p.Val522Leu
ENST00000361778.7:c.1564G>C	ENSP00000354678.2:p.Val522Leu
ENST00000378617.3:c.2815G>C	ENSP00000367880.3:p.Val939Leu
ENST00000465745.6:n.3816G>C
ENST00000474436.1:n.4840G>C
ENST00000491687.1:n.165G>C
ENST00000700254.1:c.1564G>C	ENSP00000514892.1:p.Val522Leu
ENST00000700255.1:c.*1995G>C	ENSP00000514893.1:n.*1995G>C
ENST00000700256.1:n.2847G>C
ENST00000700257.1:c.2815G>C	ENSP00000514894.1:p.Val939Leu
ENST00000700258.1:n.806G>C
ENST00000700259.1:c.*378G>C	ENSP00000514895.1:n.*378G>C
ENST00000700260.1:c.1384G>C	ENSP00000514896.1:p.Val462Leu
ENST00000700261.1:c.1822G>C	ENSP00000514897.1:p.Val608Leu
ENST00000700262.1:c.1564G>C	ENSP00000514898.1:p.Val522Leu
ENST00000700263.1:c.2691G>C	ENSP00000514899.1:n.2691G>C
ENST00000700264.1:c.2815G>C	ENSP00000514900.1:p.Val939Leu
XM_005251619.2:c.2815G>C	XP_005251676.1:p.Val939Leu
XM_005251619.3:c.2815G>C	XP_005251676.1:p.Val939Leu
XM_011518056.1:c.2815G>C	XP_011516358.1:p.Val939Leu
XM_017015222.2:c.2815G>C	XP_016870711.1:p.Val939Leu
XM_017015223.1:c.1564G>C	XP_016870712.1:p.Val522Leu
XM_017015224.1:c.1564G>C	XP_016870713.1:p.Val522Leu
XR_001746390.1:n.3238G>C
XR_001746391.2:n.1585G>C
XR_242515.1:n.2836G>C
XR_242515.3:n.2836G>C