Canonical Allele Identifier: CA5040284

Gene: PIGO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35090146G>A , CM000671.2:g.35090146G>A	GRCh38
NC_000009.11:g.35090143G>A , CM000671.1:g.35090143G>A	GRCh37
NC_000009.10:g.35080143G>A	NCBI36
NG_031990.1:g.11456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.1738C>T	ENSP00000354678.2:p.Arg580Trp
ENST00000700254.1:c.1738C>T	ENSP00000514892.1:p.Arg580Trp
ENST00000700255.1:c.*2169C>T	ENSP00000514893.1:n.*2169C>T
ENST00000700256.1:n.3206C>T
ENST00000700257.1:c.2989C>T	ENSP00000514894.1:p.Arg997Trp
ENST00000700258.1:n.980C>T
ENST00000700259.1:c.*552C>T	ENSP00000514895.1:n.*552C>T
ENST00000700260.1:c.1558C>T	ENSP00000514896.1:p.Arg520Trp
ENST00000700261.1:c.1996C>T	ENSP00000514897.1:p.Arg666Trp
ENST00000700262.1:c.1738C>T	ENSP00000514898.1:p.Arg580Trp
ENST00000700263.1:c.2865C>T	ENSP00000514899.1:n.2865C>T
ENST00000700264.1:c.2989C>T	ENSP00000514900.1:p.Arg997Trp
ENST00000378617.4:c.2989C>T MANE Select	ENSP00000367880.3:p.Arg997Trp
ENST00000298004.9:c.1738C>T	ENSP00000298004.5:p.Arg580Trp
ENST00000361778.6:c.1738C>T	ENSP00000354678.2:p.Arg580Trp
ENST00000378617.3:c.2989C>T	ENSP00000367880.3:p.Arg997Trp
ENST00000465745.6:n.3994C>T
ENST00000474436.1:n.5199C>T
ENST00000491687.1:n.204+320C>T
NM_001201484.1:c.1738C>T	NP_001188413.1:p.Arg580Trp
NM_032634.3:c.2989C>T	NP_116023.2:p.Arg997Trp
NM_152850.3:c.1738C>T	NP_690577.2:p.Arg580Trp
XM_005251619.2:c.2989C>T	XP_005251676.1:p.Arg997Trp
XM_011518056.1:c.2989C>T	XP_011516358.1:p.Arg997Trp
XR_242515.1:n.3014C>T
XM_005251619.3:c.2989C>T	XP_005251676.1:p.Arg997Trp
XM_017015222.2:c.2989C>T	XP_016870711.1:p.Arg997Trp
XM_017015223.1:c.1738C>T	XP_016870712.1:p.Arg580Trp
XM_017015224.1:c.1738C>T	XP_016870713.1:p.Arg580Trp
XR_001746390.1:n.3416C>T
XR_001746391.2:n.1763C>T
XR_242515.3:n.3014C>T
NM_032634.4:c.2989C>T MANE Select	NP_116023.2:p.Arg997Trp
NM_001201484.2:c.1738C>T	NP_001188413.1:p.Arg580Trp
NM_152850.4:c.1738C>T	NP_690577.2:p.Arg580Trp