Canonical Allele Identifier: CA9367440

Gene: GPI

Linked Data

• dbSNP Id: rs543065808
• ExAC: 19:34890493 T / C
• gnomAD v2: 19-34890493-T-C
• gnomAD v3: 19-34399588-T-C
• gnomAD v4: 19-34399588-T-C
• MyVariant Identifiers: chr19:g.34890493T>C (hg19) ; chr19:g.34399588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399588T>C , CM000681.2:g.34399588T>C	GRCh38
NC_000019.9:g.34890493T>C , CM000681.1:g.34890493T>C	GRCh37
NC_000019.8:g.39582333T>C	NCBI36
NG_012838.2:g.39849T>C
NG_012838.3:g.44997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1431T>C MANE Select	ENSP00000348877.3:p.Ile477=
ENST00000415930.8:c.1548T>C	ENSP00000405573.3:p.Ile516=
ENST00000586425.2:c.1158-148T>C
ENST00000588991.7:c.1464T>C	ENSP00000465858.3:p.Ile488=
ENST00000643067.1:n.2476T>C
ENST00000647446.1:c.*482T>C	ENSP00000495129.1:n.*482T>C
ENST00000356487.9:c.1431T>C	ENSP00000348877.3:p.Ile477=
ENST00000415930.7:c.1464T>C	ENSP00000405573.2:p.Ile488=
ENST00000586077.1:n.2306T>C
ENST00000586392.1:n.1169T>C
ENST00000586425.1:c.1398+253T>C	ENSP00000467670.2:n.1398+253T>C
ENST00000588991.6:c.1476T>C	ENSP00000465858.2:p.Ile492=
ENST00000592740.5:c.193+2931T>C
NM_000175.3:c.1431T>C	NP_000166.2:p.Ile477=
NM_001184722.1:c.1464T>C	NP_001171651.1:p.Ile488=
NM_001289789.1:c.1548T>C	NP_001276718.1:p.Ile516=
NM_001289790.1:c.1347T>C	NP_001276719.1:p.Ile449=
XM_005258764.1:c.1431T>C	XP_005258821.1:p.Ile477=
XM_006723148.1:c.1431T>C	XP_006723211.1:p.Ile477=
XM_011526754.1:c.1548T>C	XP_011525056.1:p.Ile516=
NM_000175.5:c.1431T>C MANE Select	NP_000166.2:p.Ile477=
NM_001289790.2:c.1347T>C	NP_001276719.1:p.Ile449=
NM_001329909.1:c.1431T>C	NP_001316838.1:p.Ile477=
NM_001329910.1:c.1431T>C	NP_001316839.1:p.Ile477=
NM_001329911.1:c.1404T>C	NP_001316840.1:p.Ile468=
XM_011526754.3:c.1548T>C	XP_011525056.1:p.Ile516=
NM_001289790.3:c.1347T>C	NP_001276719.1:p.Ile449=
NM_001329911.2:c.1404T>C	NP_001316840.1:p.Ile468=