Canonical Allele Identifier: CA16043056
Gene: PIGN HGNC NCBI

Linked Data

ClinVar Variation Id: 372902
ClinVar RCV Id: RCV000413707
dbSNP Id: rs1057518061
MyVariant Identifiers: chr18:g.59805471C>G (hg19) chr18:g.62138238C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62138238C>G , CM000680.2:g.62138238C>G GRCh38
NC_000018.9:g.59805471C>G , CM000680.1:g.59805471C>G GRCh37
NC_000018.8:g.57956451C>G NCBI36
NG_033144.1:g.53819G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357637.10:c.1172+5G>C ENSP00000350263.4:n.1172+5G>C
ENST00000586566.2:c.*1G>C ENSP00000467410.2:n.*1G>C
ENST00000588571.6:c.1172+5G>C ENSP00000466035.2:n.1172+5G>C
ENST00000589339.6:c.1172+5G>C ENSP00000465506.2:n.1172+5G>C
ENST00000589414.6:n.635+5G>C
ENST00000591238.6:c.1172+5G>C ENSP00000466462.2:n.1172+5G>C
ENST00000638167.1:c.1172+5G>C ENSP00000491549.1:n.1172+5G>C
ENST00000638183.1:c.1172+5G>C ENSP00000491013.1:n.1172+5G>C
ENST00000638329.1:c.1172+5G>C ENSP00000492804.1:n.1172+5G>C
ENST00000638369.1:c.1172+5G>C ENSP00000491811.1:n.1172+5G>C
ENST00000638424.1:c.1172+5G>C ENSP00000491963.1:n.1172+5G>C
ENST00000638435.1:c.941+5G>C ENSP00000491850.1:n.941+5G>C
ENST00000638591.1:c.1112+5G>C ENSP00000492660.1:n.1112+5G>C
ENST00000638858.1:n.1151+5G>C
ENST00000638904.1:c.1172+5G>C ENSP00000491318.1:n.1172+5G>C
ENST00000638936.1:c.1172+5G>C ENSP00000492592.1:n.1172+5G>C
ENST00000638977.1:c.1112+5G>C ENSP00000491010.1:n.1112+5G>C
ENST00000639174.1:c.1172+5G>C ENSP00000492783.1:n.1172+5G>C
ENST00000639214.1:n.1413+5G>C
ENST00000639342.1:c.920+5G>C ENSP00000491022.1:n.920+5G>C
ENST00000639600.1:c.642+5G>C
ENST00000639681.1:c.*532+5G>C ENSP00000491929.1:n.*532+5G>C
ENST00000639758.1:c.1112+5G>C ENSP00000491475.1:n.1112+5G>C
ENST00000639902.1:c.1172+5G>C ENSP00000490965.1:n.1172+5G>C
ENST00000639912.1:c.1112+5G>C ENSP00000490970.1:n.1112+5G>C
ENST00000640050.1:c.1172+5G>C ENSP00000492051.1:n.1172+5G>C
ENST00000640145.1:c.1172+5G>C ENSP00000491525.1:n.1172+5G>C
ENST00000640170.1:c.*532+5G>C ENSP00000491270.1:n.*532+5G>C
ENST00000640252.2:c.1172+5G>C MANE Select ENSP00000492233.1:n.1172+5G>C
ENST00000640268.1:c.1172+5G>C ENSP00000491111.1:n.1172+5G>C
ENST00000640540.1:c.1172+5G>C ENSP00000491620.1:n.1172+5G>C
ENST00000640593.1:c.*532+5G>C ENSP00000492017.1:n.*532+5G>C
ENST00000640876.1:c.1172+5G>C ENSP00000491628.1:n.1172+5G>C
ENST00000357637.9:c.1172+5G>C ENSP00000350263.4:n.1172+5G>C
ENST00000400334.7:c.1172+5G>C ENSP00000383188.2:n.1172+5G>C
ENST00000586566.1:c.44+5G>C ENSP00000467410.1:n.44+5G>C
ENST00000589414.5:n.623+5G>C
NM_012327.5:c.1172+5G>C NP_036459.1:n.1172+5G>C
NM_176787.4:c.1172+5G>C NP_789744.1:n.1172+5G>C
XM_011525889.1:c.1172+5G>C XP_011524191.1:n.1172+5G>C
XM_011525890.1:c.1172+5G>C XP_011524192.1:n.1172+5G>C
XM_011525891.1:c.1172+5G>C XP_011524193.1:n.1172+5G>C
XM_011525892.1:c.1172+5G>C XP_011524194.1:n.1172+5G>C
XM_011525893.1:c.1172+5G>C XP_011524195.1:n.1172+5G>C
XM_011525894.1:c.1172+5G>C XP_011524196.1:n.1172+5G>C
XM_011525895.1:c.1172+5G>C XP_011524197.1:n.1172+5G>C
XM_011525896.1:c.1172+5G>C XP_011524198.1:n.1172+5G>C
XM_011525897.1:c.1112+5G>C XP_011524199.1:n.1112+5G>C
XM_011525898.1:c.1172+5G>C XP_011524200.1:n.1172+5G>C
XM_017025685.1:c.1172+5G>C XP_016881174.1:n.1172+5G>C
XM_017025686.1:c.1172+5G>C XP_016881175.1:n.1172+5G>C
NM_176787.5:c.1172+5G>C MANE Select NP_789744.1:n.1172+5G>C
NM_012327.6:c.1172+5G>C NP_036459.1:n.1172+5G>C
Search 100 bp 5'
Search 100 bp 3'