Canonical Allele Identifier: CA8981871
Community Standard Title: NM_176787.5(PIGN):c.2751G>T (p.Thr917=)
Gene: PIGN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62045901C>A , CM000680.2:g.62045901C>A GRCh38
NC_000018.9:g.59713134C>A , CM000680.1:g.59713134C>A GRCh37
NC_000018.8:g.57864114C>A NCBI36
NG_033144.1:g.146156G>T

Transcript Alleles

HGVS Amino-acid Change
NM_176787.5:c.2751G>T MANE Select NP_789744.1:p.Thr917=
ENST00000640252.2:c.2751G>T MANE Select ENSP00000492233.1:p.Thr917=
NM_012327.5:c.2751G>T NP_036459.1:p.Thr917=
NM_012327.6:c.2751G>T NP_036459.1:p.Thr917=
NM_176787.4:c.2751G>T NP_789744.1:p.Thr917=
ENST00000357637.10:c.2751G>T ENSP00000350263.4:p.Thr917=
ENST00000357637.9:c.2751G>T ENSP00000350263.4:p.Thr917=
ENST00000400334.7:c.2751G>T ENSP00000383188.2:p.Thr917=
ENST00000587942.1:n.1618G>T
ENST00000638167.1:c.2349G>T ENSP00000491549.1:p.Thr783=
ENST00000638369.1:c.2568G>T ENSP00000491811.1:p.Thr856=
ENST00000638424.1:c.*719G>T ENSP00000491963.1:n.*719G>T
ENST00000638435.1:c.2520G>T ENSP00000491850.1:p.Thr840=
ENST00000638858.1:n.2847G>T
ENST00000638904.1:c.*759G>T ENSP00000491318.1:n.*759G>T
ENST00000638936.1:c.2751G>T ENSP00000492592.1:p.Thr917=
ENST00000638977.1:c.2691G>T ENSP00000491010.1:p.Thr897=
ENST00000639342.1:c.2499G>T ENSP00000491022.1:p.Thr833=
ENST00000639372.1:c.694G>T
ENST00000639491.1:n.1381G>T
ENST00000639600.1:c.2142+26772G>T
ENST00000639681.1:c.*2008G>T ENSP00000491929.1:n.*2008G>T
ENST00000639758.1:c.2691G>T ENSP00000491475.1:p.Thr897=
ENST00000639902.1:c.2868G>T ENSP00000490965.1:p.Thr956=
ENST00000639912.1:c.2691G>T ENSP00000490970.1:p.Thr897=
ENST00000640050.1:c.2751G>T ENSP00000492051.1:p.Thr917=
ENST00000640145.1:c.2751G>T ENSP00000491525.1:p.Thr917=
ENST00000640170.1:c.*2111G>T ENSP00000491270.1:n.*2111G>T
ENST00000640268.1:c.*1140G>T ENSP00000491111.1:n.*1140G>T
ENST00000640540.1:c.2868G>T ENSP00000491620.1:p.Thr956=
ENST00000640593.1:c.*1709G>T ENSP00000492017.1:n.*1709G>T
ENST00000640682.1:c.1894G>T ENSP00000491415.1:n.1894G>T
ENST00000640876.1:c.2751G>T ENSP00000491628.1:p.Thr917=
XM_011525889.1:c.2868G>T XP_011524191.1:p.Thr956=
XM_011525890.1:c.2868G>T XP_011524192.1:p.Thr956=
XM_011525891.1:c.2868G>T XP_011524193.1:p.Thr956=
XM_011525892.1:c.2868G>T XP_011524194.1:p.Thr956=
XM_011525893.1:c.2868G>T XP_011524195.1:p.Thr956=
XM_011525894.1:c.2868G>T XP_011524196.1:p.Thr956=
XM_011525895.1:c.2868G>T XP_011524197.1:p.Thr956=
XM_011525896.1:c.2811G>T XP_011524198.1:p.Thr937=
XM_011525897.1:c.2808G>T XP_011524199.1:p.Thr936=
XM_017025685.1:c.2466G>T XP_016881174.1:p.Thr822=
XM_017025686.1:c.2349G>T XP_016881175.1:p.Thr783=