Canonical Allele Identifier: CA506999817
Gene: GPI HGNC NCBI

Linked Data

dbSNP Id: rs2145437820
MyVariant Identifiers: chr19:g.34890649T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399744T>G , CM000681.2:g.34399744T>G GRCh38
NC_000019.9:g.34890649T>G , CM000681.1:g.34890649T>G GRCh37
NC_000019.8:g.39582489T>G NCBI36
NG_012838.2:g.40005T>G
NG_012838.3:g.45153T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1500T>G MANE Select ENSP00000348877.3:p.Val500=
ENST00000415930.8:c.1617T>G ENSP00000405573.3:p.Val539=
ENST00000586425.2:c.1166T>G
ENST00000588991.7:c.1533T>G ENSP00000465858.3:p.Val511=
ENST00000643067.1:n.2545T>G
ENST00000647446.1:c.*551T>G ENSP00000495129.1:n.*551T>G
ENST00000356487.9:c.1500T>G ENSP00000348877.3:p.Val500=
ENST00000415930.7:c.1533T>G ENSP00000405573.2:p.Val511=
ENST00000586077.1:n.2462T>G
ENST00000586392.1:n.1238T>G
ENST00000586425.1:c.1399-157T>G ENSP00000467670.2:n.1399-157T>G
ENST00000588991.6:c.1545T>G ENSP00000465858.2:p.Val515=
ENST00000592740.5:c.193+3087T>G
NM_000175.3:c.1500T>G NP_000166.2:p.Val500=
NM_001184722.1:c.1533T>G NP_001171651.1:p.Val511=
NM_001289789.1:c.1617T>G NP_001276718.1:p.Val539=
NM_001289790.1:c.1416T>G NP_001276719.1:p.Val472=
XM_005258764.1:c.1500T>G XP_005258821.1:p.Val500=
XM_006723148.1:c.1500T>G XP_006723211.1:p.Val500=
XM_011526754.1:c.1617T>G XP_011525056.1:p.Val539=
NM_000175.5:c.1500T>G MANE Select NP_000166.2:p.Val500=
NM_001289790.2:c.1416T>G NP_001276719.1:p.Val472=
NM_001329909.1:c.1500T>G NP_001316838.1:p.Val500=
NM_001329910.1:c.1500T>G NP_001316839.1:p.Val500=
NM_001329911.1:c.1473T>G NP_001316840.1:p.Val491=
XM_011526754.3:c.1617T>G XP_011525056.1:p.Val539=
NM_001289790.3:c.1416T>G NP_001276719.1:p.Val472=
NM_001329911.2:c.1473T>G NP_001316840.1:p.Val491=