Canonical Allele Identifier: CA402723571

Gene: PIGN

Linked Data

• ClinVar Variation Id: 2095041
• ClinVar RCV Id: RCV003012141
• gnomAD v4: 18-62074792-T-C
• MyVariant Identifiers: chr18:g.59742025T>C (hg19) ; chr18:g.62074792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62074792T>C , CM000680.2:g.62074792T>C	GRCh38
NC_000018.9:g.59742025T>C , CM000680.1:g.59742025T>C	GRCh37
NC_000018.8:g.57893005T>C	NCBI36
NG_033144.1:g.117265A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357637.10:c.2606A>G	ENSP00000350263.4:p.Asp869Gly
ENST00000638167.1:c.2204A>G	ENSP00000491549.1:p.Asp735Gly
ENST00000638183.1:c.2606A>G	ENSP00000491013.1:p.Asp869Gly
ENST00000638369.1:c.2423A>G	ENSP00000491811.1:p.Asp808Gly
ENST00000638424.1:c.*574A>G	ENSP00000491963.1:n.*574A>G
ENST00000638435.1:c.2375A>G	ENSP00000491850.1:p.Asp792Gly
ENST00000638858.1:n.2585A>G
ENST00000638904.1:c.*286A>G	ENSP00000491318.1:n.*286A>G
ENST00000638936.1:c.2606A>G	ENSP00000492592.1:p.Asp869Gly
ENST00000638977.1:c.2546A>G	ENSP00000491010.1:p.Asp849Gly
ENST00000639174.1:c.2606A>G	ENSP00000492783.1:p.Asp869Gly
ENST00000639342.1:c.2354A>G	ENSP00000491022.1:p.Asp785Gly
ENST00000639372.1:c.563-2067A>G
ENST00000639491.1:n.1236A>G
ENST00000639600.1:c.2076A>G
ENST00000639681.1:c.*1863A>G	ENSP00000491929.1:n.*1863A>G
ENST00000639758.1:c.2546A>G	ENSP00000491475.1:p.Asp849Gly
ENST00000639902.1:c.2606A>G	ENSP00000490965.1:p.Asp869Gly
ENST00000639912.1:c.2546A>G	ENSP00000490970.1:p.Asp849Gly
ENST00000640050.1:c.2606A>G	ENSP00000492051.1:p.Asp869Gly
ENST00000640145.1:c.2606A>G	ENSP00000491525.1:p.Asp869Gly
ENST00000640170.1:c.*1966A>G	ENSP00000491270.1:n.*1966A>G
ENST00000640248.1:n.1109A>G
ENST00000640252.2:c.2606A>G MANE Select	ENSP00000492233.1:p.Asp869Gly
ENST00000640268.1:c.*751A>G	ENSP00000491111.1:n.*751A>G
ENST00000640540.1:c.2606A>G	ENSP00000491620.1:p.Asp869Gly
ENST00000640593.1:c.*1564A>G	ENSP00000492017.1:n.*1564A>G
ENST00000640682.1:c.1421A>G	ENSP00000491415.1:p.Asp474Gly
ENST00000640704.1:n.390A>G
ENST00000640876.1:c.2606A>G	ENSP00000491628.1:p.Asp869Gly
ENST00000357637.9:c.2606A>G	ENSP00000350263.4:p.Asp869Gly
ENST00000400334.7:c.2606A>G	ENSP00000383188.2:p.Asp869Gly
ENST00000587942.1:n.1428A>G
NM_012327.5:c.2606A>G	NP_036459.1:p.Asp869Gly
NM_176787.4:c.2606A>G	NP_789744.1:p.Asp869Gly
XM_011525889.1:c.2606A>G	XP_011524191.1:p.Asp869Gly
XM_011525890.1:c.2606A>G	XP_011524192.1:p.Asp869Gly
XM_011525891.1:c.2606A>G	XP_011524193.1:p.Asp869Gly
XM_011525892.1:c.2606A>G	XP_011524194.1:p.Asp869Gly
XM_011525893.1:c.2606A>G	XP_011524195.1:p.Asp869Gly
XM_011525894.1:c.2606A>G	XP_011524196.1:p.Asp869Gly
XM_011525895.1:c.2606A>G	XP_011524197.1:p.Asp869Gly
XM_011525896.1:c.2606A>G	XP_011524198.1:p.Asp869Gly
XM_011525897.1:c.2546A>G	XP_011524199.1:p.Asp849Gly
XM_011525898.1:c.2606A>G	XP_011524200.1:p.Asp869Gly
XM_017025685.1:c.2204A>G	XP_016881174.1:p.Asp735Gly
XM_017025686.1:c.2204A>G	XP_016881175.1:p.Asp735Gly
NM_176787.5:c.2606A>G MANE Select	NP_789744.1:p.Asp869Gly
NM_012327.6:c.2606A>G	NP_036459.1:p.Asp869Gly