Canonical Allele Identifier: CA402607569

Gene: PIGN

Linked Data

• dbSNP Id: rs1402544772
• gnomAD v2: 18-59805485-G-A
• gnomAD v4: 18-62138252-G-A
• MyVariant Identifiers: chr18:g.59805485G>A (hg19) ; chr18:g.62138252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62138252G>A , CM000680.2:g.62138252G>A	GRCh38
NC_000018.9:g.59805485G>A , CM000680.1:g.59805485G>A	GRCh37
NC_000018.8:g.57956465G>A	NCBI36
NG_033144.1:g.53805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357637.10:c.1163C>T	ENSP00000350263.4:p.Thr388Ile
ENST00000586566.2:c.1163C>T	ENSP00000467410.2:p.Thr388Ile
ENST00000588571.6:c.1163C>T	ENSP00000466035.2:p.Thr388Ile
ENST00000589339.6:c.1163C>T	ENSP00000465506.2:p.Thr388Ile
ENST00000589414.6:n.626C>T
ENST00000591238.6:c.1163C>T	ENSP00000466462.2:p.Thr388Ile
ENST00000638167.1:c.1163C>T	ENSP00000491549.1:p.Thr388Ile
ENST00000638183.1:c.1163C>T	ENSP00000491013.1:p.Thr388Ile
ENST00000638329.1:c.1163C>T	ENSP00000492804.1:p.Thr388Ile
ENST00000638369.1:c.1163C>T	ENSP00000491811.1:p.Thr388Ile
ENST00000638424.1:c.1163C>T	ENSP00000491963.1:p.Thr388Ile
ENST00000638435.1:c.932C>T	ENSP00000491850.1:p.Thr311Ile
ENST00000638591.1:c.1103C>T	ENSP00000492660.1:p.Thr368Ile
ENST00000638858.1:n.1142C>T
ENST00000638904.1:c.1163C>T	ENSP00000491318.1:p.Thr388Ile
ENST00000638936.1:c.1163C>T	ENSP00000492592.1:p.Thr388Ile
ENST00000638977.1:c.1103C>T	ENSP00000491010.1:p.Thr368Ile
ENST00000639174.1:c.1163C>T	ENSP00000492783.1:p.Thr388Ile
ENST00000639214.1:n.1404C>T
ENST00000639342.1:c.911C>T	ENSP00000491022.1:p.Thr304Ile
ENST00000639600.1:c.633C>T
ENST00000639681.1:c.*523C>T	ENSP00000491929.1:n.*523C>T
ENST00000639758.1:c.1103C>T	ENSP00000491475.1:p.Thr368Ile
ENST00000639902.1:c.1163C>T	ENSP00000490965.1:p.Thr388Ile
ENST00000639912.1:c.1103C>T	ENSP00000490970.1:p.Thr368Ile
ENST00000640050.1:c.1163C>T	ENSP00000492051.1:p.Thr388Ile
ENST00000640145.1:c.1163C>T	ENSP00000491525.1:p.Thr388Ile
ENST00000640170.1:c.*523C>T	ENSP00000491270.1:n.*523C>T
ENST00000640252.2:c.1163C>T MANE Select	ENSP00000492233.1:p.Thr388Ile
ENST00000640268.1:c.1163C>T	ENSP00000491111.1:p.Thr388Ile
ENST00000640540.1:c.1163C>T	ENSP00000491620.1:p.Thr388Ile
ENST00000640593.1:c.*523C>T	ENSP00000492017.1:n.*523C>T
ENST00000640876.1:c.1163C>T	ENSP00000491628.1:p.Thr388Ile
ENST00000357637.9:c.1163C>T	ENSP00000350263.4:p.Thr388Ile
ENST00000400334.7:c.1163C>T	ENSP00000383188.2:p.Thr388Ile
ENST00000586566.1:c.35C>T	ENSP00000467410.1:p.Thr12Ile
ENST00000589414.5:n.614C>T
NM_012327.5:c.1163C>T	NP_036459.1:p.Thr388Ile
NM_176787.4:c.1163C>T	NP_789744.1:p.Thr388Ile
XM_011525889.1:c.1163C>T	XP_011524191.1:p.Thr388Ile
XM_011525890.1:c.1163C>T	XP_011524192.1:p.Thr388Ile
XM_011525891.1:c.1163C>T	XP_011524193.1:p.Thr388Ile
XM_011525892.1:c.1163C>T	XP_011524194.1:p.Thr388Ile
XM_011525893.1:c.1163C>T	XP_011524195.1:p.Thr388Ile
XM_011525894.1:c.1163C>T	XP_011524196.1:p.Thr388Ile
XM_011525895.1:c.1163C>T	XP_011524197.1:p.Thr388Ile
XM_011525896.1:c.1163C>T	XP_011524198.1:p.Thr388Ile
XM_011525897.1:c.1103C>T	XP_011524199.1:p.Thr368Ile
XM_011525898.1:c.1163C>T	XP_011524200.1:p.Thr388Ile
XM_017025685.1:c.1163C>T	XP_016881174.1:p.Thr388Ile
XM_017025686.1:c.1163C>T	XP_016881175.1:p.Thr388Ile
NM_176787.5:c.1163C>T MANE Select	NP_789744.1:p.Thr388Ile
NM_012327.6:c.1163C>T	NP_036459.1:p.Thr388Ile