Canonical Allele Identifier: CA405246688
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399954G>T , CM000681.2:g.34399954G>T GRCh38
NC_000019.9:g.34890859G>T , CM000681.1:g.34890859G>T GRCh37
NC_000019.8:g.39582699G>T NCBI36
NG_012838.2:g.40215G>T
NG_012838.3:g.45363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1595G>T MANE Select ENSP00000348877.3:p.Ser532Ile
ENST00000415930.8:c.1712G>T ENSP00000405573.3:p.Ser571Ile
ENST00000586425.2:c.1261G>T
ENST00000588991.7:c.1628G>T ENSP00000465858.3:p.Ser543Ile
ENST00000643067.1:n.2640G>T
ENST00000647446.1:c.*646G>T ENSP00000495129.1:n.*646G>T
ENST00000356487.9:c.1595G>T ENSP00000348877.3:p.Ser532Ile
ENST00000415930.7:c.1628G>T ENSP00000405573.2:p.Ser543Ile
ENST00000586077.1:n.2672G>T
ENST00000586392.1:n.1333G>T
ENST00000586425.1:c.*27G>T ENSP00000467670.2:n.*27G>T
ENST00000588991.6:c.1640G>T ENSP00000465858.2:p.Ser547Ile
ENST00000592740.5:c.193+3297G>T
NM_000175.3:c.1595G>T NP_000166.2:p.Ser532Ile
NM_001184722.1:c.1628G>T NP_001171651.1:p.Ser543Ile
NM_001289789.1:c.1712G>T NP_001276718.1:p.Ser571Ile
NM_001289790.1:c.1511G>T NP_001276719.1:p.Ser504Ile
XM_005258764.1:c.1595G>T XP_005258821.1:p.Ser532Ile
XM_006723148.1:c.1595G>T XP_006723211.1:p.Ser532Ile
XM_011526754.1:c.1712G>T XP_011525056.1:p.Ser571Ile
NM_000175.5:c.1595G>T MANE Select NP_000166.2:p.Ser532Ile
NM_001289790.2:c.1511G>T NP_001276719.1:p.Ser504Ile
NM_001329909.1:c.1595G>T NP_001316838.1:p.Ser532Ile
NM_001329910.1:c.1595G>T NP_001316839.1:p.Ser532Ile
NM_001329911.1:c.1568G>T NP_001316840.1:p.Ser523Ile
XM_011526754.3:c.1712G>T XP_011525056.1:p.Ser571Ile
NM_001289790.3:c.1511G>T NP_001276719.1:p.Ser504Ile
NM_001329911.2:c.1568G>T NP_001316840.1:p.Ser523Ile