Canonical Allele Identifier: CA405246049

Gene: GPI

Linked Data

• dbSNP Id: rs2074992473
• MyVariant Identifiers: chr19:g.34890492T>C (hg19) ; chr19:g.34399587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399587T>C , CM000681.2:g.34399587T>C	GRCh38
NC_000019.9:g.34890492T>C , CM000681.1:g.34890492T>C	GRCh37
NC_000019.8:g.39582332T>C	NCBI36
NG_012838.2:g.39848T>C
NG_012838.3:g.44996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1430T>C MANE Select	ENSP00000348877.3:p.Ile477Thr
ENST00000415930.8:c.1547T>C	ENSP00000405573.3:p.Ile516Thr
ENST00000586425.2:c.1158-149T>C
ENST00000588991.7:c.1463T>C	ENSP00000465858.3:p.Ile488Thr
ENST00000643067.1:n.2475T>C
ENST00000647446.1:c.*481T>C	ENSP00000495129.1:n.*481T>C
ENST00000356487.9:c.1430T>C	ENSP00000348877.3:p.Ile477Thr
ENST00000415930.7:c.1463T>C	ENSP00000405573.2:p.Ile488Thr
ENST00000586077.1:n.2305T>C
ENST00000586392.1:n.1168T>C
ENST00000586425.1:c.1398+252T>C	ENSP00000467670.2:n.1398+252T>C
ENST00000588991.6:c.1475T>C	ENSP00000465858.2:p.Ile492Thr
ENST00000592740.5:c.193+2930T>C
NM_000175.3:c.1430T>C	NP_000166.2:p.Ile477Thr
NM_001184722.1:c.1463T>C	NP_001171651.1:p.Ile488Thr
NM_001289789.1:c.1547T>C	NP_001276718.1:p.Ile516Thr
NM_001289790.1:c.1346T>C	NP_001276719.1:p.Ile449Thr
XM_005258764.1:c.1430T>C	XP_005258821.1:p.Ile477Thr
XM_006723148.1:c.1430T>C	XP_006723211.1:p.Ile477Thr
XM_011526754.1:c.1547T>C	XP_011525056.1:p.Ile516Thr
NM_000175.5:c.1430T>C MANE Select	NP_000166.2:p.Ile477Thr
NM_001289790.2:c.1346T>C	NP_001276719.1:p.Ile449Thr
NM_001329909.1:c.1430T>C	NP_001316838.1:p.Ile477Thr
NM_001329910.1:c.1430T>C	NP_001316839.1:p.Ile477Thr
NM_001329911.1:c.1403T>C	NP_001316840.1:p.Ile468Thr
XM_011526754.3:c.1547T>C	XP_011525056.1:p.Ile516Thr
NM_001289790.3:c.1346T>C	NP_001276719.1:p.Ile449Thr
NM_001329911.2:c.1403T>C	NP_001316840.1:p.Ile468Thr