Canonical Allele Identifier: CA506999735
Gene: GPI HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.34890490T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399585T>C , CM000681.2:g.34399585T>C GRCh38
NC_000019.9:g.34890490T>C , CM000681.1:g.34890490T>C GRCh37
NC_000019.8:g.39582330T>C NCBI36
NG_012838.2:g.39846T>C
NG_012838.3:g.44994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1428T>C MANE Select ENSP00000348877.3:p.Ser476=
ENST00000415930.8:c.1545T>C ENSP00000405573.3:p.Ser515=
ENST00000586425.2:c.1158-151T>C
ENST00000588991.7:c.1461T>C ENSP00000465858.3:p.Ser487=
ENST00000643067.1:n.2473T>C
ENST00000647446.1:c.*479T>C ENSP00000495129.1:n.*479T>C
ENST00000356487.9:c.1428T>C ENSP00000348877.3:p.Ser476=
ENST00000415930.7:c.1461T>C ENSP00000405573.2:p.Ser487=
ENST00000586077.1:n.2303T>C
ENST00000586392.1:n.1166T>C
ENST00000586425.1:c.1398+250T>C ENSP00000467670.2:n.1398+250T>C
ENST00000588991.6:c.1473T>C ENSP00000465858.2:p.Ser491=
ENST00000592740.5:c.193+2928T>C
NM_000175.3:c.1428T>C NP_000166.2:p.Ser476=
NM_001184722.1:c.1461T>C NP_001171651.1:p.Ser487=
NM_001289789.1:c.1545T>C NP_001276718.1:p.Ser515=
NM_001289790.1:c.1344T>C NP_001276719.1:p.Ser448=
XM_005258764.1:c.1428T>C XP_005258821.1:p.Ser476=
XM_006723148.1:c.1428T>C XP_006723211.1:p.Ser476=
XM_011526754.1:c.1545T>C XP_011525056.1:p.Ser515=
NM_000175.5:c.1428T>C MANE Select NP_000166.2:p.Ser476=
NM_001289790.2:c.1344T>C NP_001276719.1:p.Ser448=
NM_001329909.1:c.1428T>C NP_001316838.1:p.Ser476=
NM_001329910.1:c.1428T>C NP_001316839.1:p.Ser476=
NM_001329911.1:c.1401T>C NP_001316840.1:p.Ser467=
XM_011526754.3:c.1545T>C XP_011525056.1:p.Ser515=
NM_001289790.3:c.1344T>C NP_001276719.1:p.Ser448=
NM_001329911.2:c.1401T>C NP_001316840.1:p.Ser467=