Canonical Allele Identifier: CA9367502

Gene: GPI

Linked Data

• dbSNP Id: rs756607824
• ExAC: 19:34890915 C / G
• gnomAD v2: 19-34890915-C-G
• gnomAD v4: 19-34400010-C-G
• MyVariant Identifiers: chr19:g.34890915C>G (hg19) ; chr19:g.34400010C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400010C>G , CM000681.2:g.34400010C>G	GRCh38
NC_000019.9:g.34890915C>G , CM000681.1:g.34890915C>G	GRCh37
NC_000019.8:g.39582755C>G	NCBI36
NG_012838.2:g.40271C>G
NG_012838.3:g.45419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1651C>G MANE Select	ENSP00000348877.3:p.Gln551Glu
ENST00000415930.8:c.1768C>G	ENSP00000405573.3:p.Gln590Glu
ENST00000586425.2:c.1317C>G
ENST00000588991.7:c.1684C>G	ENSP00000465858.3:p.Gln562Glu
ENST00000643067.1:n.2696C>G
ENST00000647446.1:c.*702C>G	ENSP00000495129.1:n.*702C>G
ENST00000356487.9:c.1651C>G	ENSP00000348877.3:p.Gln551Glu
ENST00000415930.7:c.1684C>G	ENSP00000405573.2:p.Gln562Glu
ENST00000586077.1:n.2728C>G
ENST00000586392.1:n.1389C>G
ENST00000586425.1:c.*83C>G	ENSP00000467670.2:n.*83C>G
ENST00000588991.6:c.1696C>G	ENSP00000465858.2:p.Gln566Glu
ENST00000592740.5:c.193+3353C>G
NM_000175.3:c.1651C>G	NP_000166.2:p.Gln551Glu
NM_001184722.1:c.1684C>G	NP_001171651.1:p.Gln562Glu
NM_001289789.1:c.1768C>G	NP_001276718.1:p.Gln590Glu
NM_001289790.1:c.1567C>G	NP_001276719.1:p.Gln523Glu
XM_005258764.1:c.1651C>G	XP_005258821.1:p.Gln551Glu
XM_006723148.1:c.1651C>G	XP_006723211.1:p.Gln551Glu
XM_011526754.1:c.1768C>G	XP_011525056.1:p.Gln590Glu
NM_000175.5:c.1651C>G MANE Select	NP_000166.2:p.Gln551Glu
NM_001289790.2:c.1567C>G	NP_001276719.1:p.Gln523Glu
NM_001329909.1:c.1651C>G	NP_001316838.1:p.Gln551Glu
NM_001329910.1:c.1651C>G	NP_001316839.1:p.Gln551Glu
NM_001329911.1:c.1624C>G	NP_001316840.1:p.Gln542Glu
XM_011526754.3:c.1768C>G	XP_011525056.1:p.Gln590Glu
NM_001289790.3:c.1567C>G	NP_001276719.1:p.Gln523Glu
NM_001329911.2:c.1624C>G	NP_001316840.1:p.Gln542Glu