Canonical Allele Identifier: CA405246146

Gene: GPI

Linked Data

• dbSNP Id: rs1311905791
• gnomAD v2: 19-34890510-C-T
• gnomAD v3: 19-34399605-C-T
• gnomAD v4: 19-34399605-C-T
• MyVariant Identifiers: chr19:g.34890510C>T (hg19) ; chr19:g.34399605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399605C>T , CM000681.2:g.34399605C>T	GRCh38
NC_000019.9:g.34890510C>T , CM000681.1:g.34890510C>T	GRCh37
NC_000019.8:g.39582350C>T	NCBI36
NG_012838.2:g.39866C>T
NG_012838.3:g.45014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1448C>T MANE Select	ENSP00000348877.3:p.Thr483Ile
ENST00000415930.8:c.1565C>T	ENSP00000405573.3:p.Thr522Ile
ENST00000586425.2:c.1158-131C>T
ENST00000588991.7:c.1481C>T	ENSP00000465858.3:p.Thr494Ile
ENST00000643067.1:n.2493C>T
ENST00000647446.1:c.*499C>T	ENSP00000495129.1:n.*499C>T
ENST00000356487.9:c.1448C>T	ENSP00000348877.3:p.Thr483Ile
ENST00000415930.7:c.1481C>T	ENSP00000405573.2:p.Thr494Ile
ENST00000586077.1:n.2323C>T
ENST00000586392.1:n.1186C>T
ENST00000586425.1:c.1398+270C>T	ENSP00000467670.2:n.1398+270C>T
ENST00000588991.6:c.1493C>T	ENSP00000465858.2:p.Thr498Ile
ENST00000592740.5:c.193+2948C>T
NM_000175.3:c.1448C>T	NP_000166.2:p.Thr483Ile
NM_001184722.1:c.1481C>T	NP_001171651.1:p.Thr494Ile
NM_001289789.1:c.1565C>T	NP_001276718.1:p.Thr522Ile
NM_001289790.1:c.1364C>T	NP_001276719.1:p.Thr455Ile
XM_005258764.1:c.1448C>T	XP_005258821.1:p.Thr483Ile
XM_006723148.1:c.1448C>T	XP_006723211.1:p.Thr483Ile
XM_011526754.1:c.1565C>T	XP_011525056.1:p.Thr522Ile
NM_000175.5:c.1448C>T MANE Select	NP_000166.2:p.Thr483Ile
NM_001289790.2:c.1364C>T	NP_001276719.1:p.Thr455Ile
NM_001329909.1:c.1448C>T	NP_001316838.1:p.Thr483Ile
NM_001329910.1:c.1448C>T	NP_001316839.1:p.Thr483Ile
NM_001329911.1:c.1421C>T	NP_001316840.1:p.Thr474Ile
XM_011526754.3:c.1565C>T	XP_011525056.1:p.Thr522Ile
NM_001289790.3:c.1364C>T	NP_001276719.1:p.Thr455Ile
NM_001329911.2:c.1421C>T	NP_001316840.1:p.Thr474Ile