Canonical Allele Identifier: CA405246779
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399999A>T , CM000681.2:g.34399999A>T GRCh38
NC_000019.9:g.34890904A>T , CM000681.1:g.34890904A>T GRCh37
NC_000019.8:g.39582744A>T NCBI36
NG_012838.2:g.40260A>T
NG_012838.3:g.45408A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1640A>T MANE Select ENSP00000348877.3:p.Asn547Ile
ENST00000415930.8:c.1757A>T ENSP00000405573.3:p.Asn586Ile
ENST00000586425.2:c.1306A>T
ENST00000588991.7:c.1673A>T ENSP00000465858.3:p.Asn558Ile
ENST00000643067.1:n.2685A>T
ENST00000647446.1:c.*691A>T ENSP00000495129.1:n.*691A>T
ENST00000356487.9:c.1640A>T ENSP00000348877.3:p.Asn547Ile
ENST00000415930.7:c.1673A>T ENSP00000405573.2:p.Asn558Ile
ENST00000586077.1:n.2717A>T
ENST00000586392.1:n.1378A>T
ENST00000586425.1:c.*72A>T ENSP00000467670.2:n.*72A>T
ENST00000588991.6:c.1685A>T ENSP00000465858.2:p.Asn562Ile
ENST00000592740.5:c.193+3342A>T
NM_000175.3:c.1640A>T NP_000166.2:p.Asn547Ile
NM_001184722.1:c.1673A>T NP_001171651.1:p.Asn558Ile
NM_001289789.1:c.1757A>T NP_001276718.1:p.Asn586Ile
NM_001289790.1:c.1556A>T NP_001276719.1:p.Asn519Ile
XM_005258764.1:c.1640A>T XP_005258821.1:p.Asn547Ile
XM_006723148.1:c.1640A>T XP_006723211.1:p.Asn547Ile
XM_011526754.1:c.1757A>T XP_011525056.1:p.Asn586Ile
NM_000175.5:c.1640A>T MANE Select NP_000166.2:p.Asn547Ile
NM_001289790.2:c.1556A>T NP_001276719.1:p.Asn519Ile
NM_001329909.1:c.1640A>T NP_001316838.1:p.Asn547Ile
NM_001329910.1:c.1640A>T NP_001316839.1:p.Asn547Ile
NM_001329911.1:c.1613A>T NP_001316840.1:p.Asn538Ile
XM_011526754.3:c.1757A>T XP_011525056.1:p.Asn586Ile
NM_001289790.3:c.1556A>T NP_001276719.1:p.Asn519Ile
NM_001329911.2:c.1613A>T NP_001316840.1:p.Asn538Ile