Canonical Allele Identifier: CA405246830

Gene: GPI

Linked Data

• gnomAD v4: 19-34400021-G-T
• MyVariant Identifiers: chr19:g.34890926G>T (hg19) ; chr19:g.34400021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400021G>T , CM000681.2:g.34400021G>T	GRCh38
NC_000019.9:g.34890926G>T , CM000681.1:g.34890926G>T	GRCh37
NC_000019.8:g.39582766G>T	NCBI36
NG_012838.2:g.40282G>T
NG_012838.3:g.45430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1662G>T MANE Select	ENSP00000348877.3:p.Glu554Asp
ENST00000415930.8:c.1779G>T	ENSP00000405573.3:p.Glu593Asp
ENST00000586425.2:c.1328G>T
ENST00000588991.7:c.1695G>T	ENSP00000465858.3:p.Glu565Asp
ENST00000643067.1:n.2707G>T
ENST00000647446.1:c.*713G>T	ENSP00000495129.1:n.*713G>T
ENST00000356487.9:c.1662G>T	ENSP00000348877.3:p.Glu554Asp
ENST00000415930.7:c.1695G>T	ENSP00000405573.2:p.Glu565Asp
ENST00000586077.1:n.2739G>T
ENST00000586392.1:n.1400G>T
ENST00000586425.1:c.*94G>T	ENSP00000467670.2:n.*94G>T
ENST00000588991.6:c.1707G>T	ENSP00000465858.2:p.Glu569Asp
ENST00000592740.5:c.193+3364G>T
NM_000175.3:c.1662G>T	NP_000166.2:p.Glu554Asp
NM_001184722.1:c.1695G>T	NP_001171651.1:p.Glu565Asp
NM_001289789.1:c.1779G>T	NP_001276718.1:p.Glu593Asp
NM_001289790.1:c.1578G>T	NP_001276719.1:p.Glu526Asp
XM_005258764.1:c.1662G>T	XP_005258821.1:p.Glu554Asp
XM_006723148.1:c.1662G>T	XP_006723211.1:p.Glu554Asp
XM_011526754.1:c.1779G>T	XP_011525056.1:p.Glu593Asp
NM_000175.5:c.1662G>T MANE Select	NP_000166.2:p.Glu554Asp
NM_001289790.2:c.1578G>T	NP_001276719.1:p.Glu526Asp
NM_001329909.1:c.1662G>T	NP_001316838.1:p.Glu554Asp
NM_001329910.1:c.1662G>T	NP_001316839.1:p.Glu554Asp
NM_001329911.1:c.1635G>T	NP_001316840.1:p.Glu545Asp
XM_011526754.3:c.1779G>T	XP_011525056.1:p.Glu593Asp
NM_001289790.3:c.1578G>T	NP_001276719.1:p.Glu526Asp
NM_001329911.2:c.1635G>T	NP_001316840.1:p.Glu545Asp