Canonical Allele Identifier: CA405246839

Gene: GPI

Linked Data

• dbSNP Id: rs747722589
• gnomAD v2: 19-34890931-G-T
• gnomAD v4: 19-34400026-G-T
• MyVariant Identifiers: chr19:g.34890931G>T (hg19) ; chr19:g.34400026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400026G>T , CM000681.2:g.34400026G>T	GRCh38
NC_000019.9:g.34890931G>T , CM000681.1:g.34890931G>T	GRCh37
NC_000019.8:g.39582771G>T	NCBI36
NG_012838.2:g.40287G>T
NG_012838.3:g.45435G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1667G>T MANE Select	ENSP00000348877.3:p.Arg556Ile
ENST00000415930.8:c.1784G>T	ENSP00000405573.3:p.Arg595Ile
ENST00000586425.2:c.1333G>T
ENST00000588991.7:c.1700G>T	ENSP00000465858.3:p.Arg567Ile
ENST00000643067.1:n.2712G>T
ENST00000647446.1:c.*718G>T	ENSP00000495129.1:n.*718G>T
ENST00000356487.9:c.1667G>T	ENSP00000348877.3:p.Arg556Ile
ENST00000415930.7:c.1700G>T	ENSP00000405573.2:p.Arg567Ile
ENST00000586077.1:n.2744G>T
ENST00000586392.1:n.1405G>T
ENST00000586425.1:c.*99G>T	ENSP00000467670.2:n.*99G>T
ENST00000588991.6:c.1712G>T	ENSP00000465858.2:p.Arg571Ile
ENST00000592740.5:c.193+3369G>T
NM_000175.3:c.1667G>T	NP_000166.2:p.Arg556Ile
NM_001184722.1:c.1700G>T	NP_001171651.1:p.Arg567Ile
NM_001289789.1:c.1784G>T	NP_001276718.1:p.Arg595Ile
NM_001289790.1:c.1583G>T	NP_001276719.1:p.Arg528Ile
XM_005258764.1:c.1667G>T	XP_005258821.1:p.Arg556Ile
XM_006723148.1:c.1667G>T	XP_006723211.1:p.Arg556Ile
XM_011526754.1:c.1784G>T	XP_011525056.1:p.Arg595Ile
NM_000175.5:c.1667G>T MANE Select	NP_000166.2:p.Arg556Ile
NM_001289790.2:c.1583G>T	NP_001276719.1:p.Arg528Ile
NM_001329909.1:c.1667G>T	NP_001316838.1:p.Arg556Ile
NM_001329910.1:c.1667G>T	NP_001316839.1:p.Arg556Ile
NM_001329911.1:c.1640G>T	NP_001316840.1:p.Arg547Ile
XM_011526754.3:c.1784G>T	XP_011525056.1:p.Arg595Ile
NM_001289790.3:c.1583G>T	NP_001276719.1:p.Arg528Ile
NM_001329911.2:c.1640G>T	NP_001316840.1:p.Arg547Ile