Canonical Allele Identifier: CA8982116
Gene: PIGN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62101160C>T , CM000680.2:g.62101160C>T GRCh38
NC_000018.9:g.59768393C>T , CM000680.1:g.59768393C>T GRCh37
NC_000018.8:g.57919373C>T NCBI36
NG_033144.1:g.90897G>A

Transcript Alleles

HGVS Amino-acid Change
NM_176787.5:c.1992G>A MANE Select NP_789744.1:p.Met664Ile
ENST00000640252.2:c.1992G>A MANE Select ENSP00000492233.1:p.Met664Ile
NM_012327.5:c.1992G>A NP_036459.1:p.Met664Ile
NM_012327.6:c.1992G>A NP_036459.1:p.Met664Ile
NM_176787.4:c.1992G>A NP_789744.1:p.Met664Ile
ENST00000357637.10:c.1992G>A ENSP00000350263.4:p.Met664Ile
ENST00000357637.9:c.1992G>A ENSP00000350263.4:p.Met664Ile
ENST00000400334.7:c.1992G>A ENSP00000383188.2:p.Met664Ile
ENST00000587942.1:n.854G>A
ENST00000638167.1:c.1590G>A ENSP00000491549.1:p.Met530Ile
ENST00000638183.1:c.1992G>A ENSP00000491013.1:p.Met664Ile
ENST00000638369.1:c.1809G>A ENSP00000491811.1:p.Met603Ile
ENST00000638424.1:c.1992G>A ENSP00000491963.1:p.Met664Ile
ENST00000638435.1:c.1761G>A ENSP00000491850.1:p.Met587Ile
ENST00000638858.1:n.1971G>A
ENST00000638904.1:c.1992G>A ENSP00000491318.1:p.Met664Ile
ENST00000638936.1:c.1992G>A ENSP00000492592.1:p.Met664Ile
ENST00000638977.1:c.1932G>A ENSP00000491010.1:p.Met644Ile
ENST00000639174.1:c.1992G>A ENSP00000492783.1:p.Met664Ile
ENST00000639342.1:c.1740G>A ENSP00000491022.1:p.Met580Ile
ENST00000639372.1:c.52G>A
ENST00000639600.1:c.1462G>A
ENST00000639681.1:c.*1352G>A ENSP00000491929.1:n.*1352G>A
ENST00000639758.1:c.1932G>A ENSP00000491475.1:p.Met644Ile
ENST00000639902.1:c.1992G>A ENSP00000490965.1:p.Met664Ile
ENST00000639912.1:c.1932G>A ENSP00000490970.1:p.Met644Ile
ENST00000640050.1:c.1992G>A ENSP00000492051.1:p.Met664Ile
ENST00000640145.1:c.1992G>A ENSP00000491525.1:p.Met664Ile
ENST00000640170.1:c.*1352G>A ENSP00000491270.1:n.*1352G>A
ENST00000640268.1:c.*137G>A ENSP00000491111.1:n.*137G>A
ENST00000640540.1:c.1992G>A ENSP00000491620.1:p.Met664Ile
ENST00000640593.1:c.*950G>A ENSP00000492017.1:n.*950G>A
ENST00000640682.1:c.807G>A ENSP00000491415.1:p.Met269Ile
ENST00000640876.1:c.1992G>A ENSP00000491628.1:p.Met664Ile
XM_011525889.1:c.1992G>A XP_011524191.1:p.Met664Ile
XM_011525890.1:c.1992G>A XP_011524192.1:p.Met664Ile
XM_011525891.1:c.1992G>A XP_011524193.1:p.Met664Ile
XM_011525892.1:c.1992G>A XP_011524194.1:p.Met664Ile
XM_011525893.1:c.1992G>A XP_011524195.1:p.Met664Ile
XM_011525894.1:c.1992G>A XP_011524196.1:p.Met664Ile
XM_011525895.1:c.1992G>A XP_011524197.1:p.Met664Ile
XM_011525896.1:c.1992G>A XP_011524198.1:p.Met664Ile
XM_011525897.1:c.1932G>A XP_011524199.1:p.Met644Ile
XM_011525898.1:c.1992G>A XP_011524200.1:p.Met664Ile
XM_017025685.1:c.1590G>A XP_016881174.1:p.Met530Ile
XM_017025686.1:c.1590G>A XP_016881175.1:p.Met530Ile