Canonical Allele Identifier: CA402602245

Gene: PIGN

Linked Data

• gnomAD v4: 18-62148299-A-G
• MyVariant Identifiers: chr18:g.59815532A>G (hg19) ; chr18:g.62148299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62148299A>G , CM000680.2:g.62148299A>G	GRCh38
NC_000018.9:g.59815532A>G , CM000680.1:g.59815532A>G	GRCh37
NC_000018.8:g.57966512A>G	NCBI36
NG_033144.1:g.43758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357637.10:c.589T>C	ENSP00000350263.4:p.Ser197Pro
ENST00000585344.6:c.589T>C	ENSP00000465897.2:p.Ser197Pro
ENST00000586566.2:c.589T>C	ENSP00000467410.2:p.Ser197Pro
ENST00000588571.6:c.589T>C	ENSP00000466035.2:p.Ser197Pro
ENST00000589339.6:c.589T>C	ENSP00000465506.2:p.Ser197Pro
ENST00000589414.6:n.52T>C
ENST00000591238.6:c.589T>C	ENSP00000466462.2:p.Ser197Pro
ENST00000592803.2:c.352T>C
ENST00000638167.1:c.589T>C	ENSP00000491549.1:p.Ser197Pro
ENST00000638183.1:c.589T>C	ENSP00000491013.1:p.Ser197Pro
ENST00000638329.1:c.589T>C	ENSP00000492804.1:p.Ser197Pro
ENST00000638369.1:c.589T>C	ENSP00000491811.1:p.Ser197Pro
ENST00000638424.1:c.589T>C	ENSP00000491963.1:p.Ser197Pro
ENST00000638435.1:c.358T>C	ENSP00000491850.1:p.Ser120Pro
ENST00000638591.1:c.589T>C	ENSP00000492660.1:p.Ser197Pro
ENST00000638858.1:n.568T>C
ENST00000638904.1:c.589T>C	ENSP00000491318.1:p.Ser197Pro
ENST00000638936.1:c.589T>C	ENSP00000492592.1:p.Ser197Pro
ENST00000638977.1:c.589T>C	ENSP00000491010.1:p.Ser197Pro
ENST00000639174.1:c.589T>C	ENSP00000492783.1:p.Ser197Pro
ENST00000639214.1:n.830T>C
ENST00000639342.1:c.443-46T>C	ENSP00000491022.1:n.443-46T>C
ENST00000639600.1:c.119T>C
ENST00000639681.1:c.550-46T>C	ENSP00000491929.1:n.550-46T>C
ENST00000639758.1:c.589T>C	ENSP00000491475.1:p.Ser197Pro
ENST00000639902.1:c.589T>C	ENSP00000490965.1:p.Ser197Pro
ENST00000639912.1:c.589T>C	ENSP00000490970.1:p.Ser197Pro
ENST00000640050.1:c.589T>C	ENSP00000492051.1:p.Ser197Pro
ENST00000640145.1:c.589T>C	ENSP00000491525.1:p.Ser197Pro
ENST00000640170.1:c.550-46T>C	ENSP00000491270.1:n.550-46T>C
ENST00000640252.2:c.589T>C MANE Select	ENSP00000492233.1:p.Ser197Pro
ENST00000640268.1:c.589T>C	ENSP00000491111.1:p.Ser197Pro
ENST00000640540.1:c.589T>C	ENSP00000491620.1:p.Ser197Pro
ENST00000640593.1:c.550-46T>C	ENSP00000492017.1:n.550-46T>C
ENST00000640876.1:c.589T>C	ENSP00000491628.1:p.Ser197Pro
ENST00000357637.9:c.589T>C	ENSP00000350263.4:p.Ser197Pro
ENST00000400334.7:c.589T>C	ENSP00000383188.2:p.Ser197Pro
ENST00000588748.5:c.358T>C	ENSP00000467458.1:p.Ser120Pro
ENST00000589414.5:n.40T>C
ENST00000591238.5:c.358T>C	ENSP00000466462.1:p.Ser120Pro
ENST00000592803.1:c.29-46T>C
NM_012327.5:c.589T>C	NP_036459.1:p.Ser197Pro
NM_176787.4:c.589T>C	NP_789744.1:p.Ser197Pro
XM_011525889.1:c.589T>C	XP_011524191.1:p.Ser197Pro
XM_011525890.1:c.589T>C	XP_011524192.1:p.Ser197Pro
XM_011525891.1:c.589T>C	XP_011524193.1:p.Ser197Pro
XM_011525892.1:c.589T>C	XP_011524194.1:p.Ser197Pro
XM_011525893.1:c.589T>C	XP_011524195.1:p.Ser197Pro
XM_011525894.1:c.589T>C	XP_011524196.1:p.Ser197Pro
XM_011525895.1:c.589T>C	XP_011524197.1:p.Ser197Pro
XM_011525896.1:c.589T>C	XP_011524198.1:p.Ser197Pro
XM_011525897.1:c.589T>C	XP_011524199.1:p.Ser197Pro
XM_011525898.1:c.589T>C	XP_011524200.1:p.Ser197Pro
XM_017025685.1:c.589T>C	XP_016881174.1:p.Ser197Pro
XM_017025686.1:c.589T>C	XP_016881175.1:p.Ser197Pro
NM_176787.5:c.589T>C MANE Select	NP_789744.1:p.Ser197Pro
NM_012327.6:c.589T>C	NP_036459.1:p.Ser197Pro