Canonical Allele Identifier: CA405246383
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399726T>G , CM000681.2:g.34399726T>G GRCh38
NC_000019.9:g.34890631T>G , CM000681.1:g.34890631T>G GRCh37
NC_000019.8:g.39582471T>G NCBI36
NG_012838.2:g.39987T>G
NG_012838.3:g.45135T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1482T>G MANE Select ENSP00000348877.3:p.Tyr494Ter
ENST00000415930.8:c.1599T>G ENSP00000405573.3:p.Tyr533Ter
ENST00000586425.2:c.1158-10T>G
ENST00000588991.7:c.1515T>G ENSP00000465858.3:p.Tyr505Ter
ENST00000643067.1:n.2527T>G
ENST00000647446.1:c.*533T>G ENSP00000495129.1:n.*533T>G
ENST00000356487.9:c.1482T>G ENSP00000348877.3:p.Tyr494Ter
ENST00000415930.7:c.1515T>G ENSP00000405573.2:p.Tyr505Ter
ENST00000586077.1:n.2444T>G
ENST00000586392.1:n.1220T>G
ENST00000586425.1:c.1399-175T>G ENSP00000467670.2:n.1399-175T>G
ENST00000588991.6:c.1527T>G ENSP00000465858.2:p.Tyr509Ter
ENST00000592740.5:c.193+3069T>G
NM_000175.3:c.1482T>G NP_000166.2:p.Tyr494Ter
NM_001184722.1:c.1515T>G NP_001171651.1:p.Tyr505Ter
NM_001289789.1:c.1599T>G NP_001276718.1:p.Tyr533Ter
NM_001289790.1:c.1398T>G NP_001276719.1:p.Tyr466Ter
XM_005258764.1:c.1482T>G XP_005258821.1:p.Tyr494Ter
XM_006723148.1:c.1482T>G XP_006723211.1:p.Tyr494Ter
XM_011526754.1:c.1599T>G XP_011525056.1:p.Tyr533Ter
NM_000175.5:c.1482T>G MANE Select NP_000166.2:p.Tyr494Ter
NM_001289790.2:c.1398T>G NP_001276719.1:p.Tyr466Ter
NM_001329909.1:c.1482T>G NP_001316838.1:p.Tyr494Ter
NM_001329910.1:c.1482T>G NP_001316839.1:p.Tyr494Ter
NM_001329911.1:c.1455T>G NP_001316840.1:p.Tyr485Ter
XM_011526754.3:c.1599T>G XP_011525056.1:p.Tyr533Ter
NM_001289790.3:c.1398T>G NP_001276719.1:p.Tyr466Ter
NM_001329911.2:c.1455T>G NP_001316840.1:p.Tyr485Ter