Canonical Allele Identifier: CA9367455

Gene: GPI

Linked Data

• dbSNP Id: rs767420407
• ExAC: 19:34890650 C / G
• gnomAD v2: 19-34890650-C-G
• gnomAD v4: 19-34399745-C-G
• MyVariant Identifiers: chr19:g.34890650C>G (hg19) ; chr19:g.34399745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399745C>G , CM000681.2:g.34399745C>G	GRCh38
NC_000019.9:g.34890650C>G , CM000681.1:g.34890650C>G	GRCh37
NC_000019.8:g.39582490C>G	NCBI36
NG_012838.2:g.40006C>G
NG_012838.3:g.45154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1501C>G MANE Select	ENSP00000348877.3:p.Gln501Glu
ENST00000415930.8:c.1618C>G	ENSP00000405573.3:p.Gln540Glu
ENST00000586425.2:c.1167C>G
ENST00000588991.7:c.1534C>G	ENSP00000465858.3:p.Gln512Glu
ENST00000643067.1:n.2546C>G
ENST00000647446.1:c.*552C>G	ENSP00000495129.1:n.*552C>G
ENST00000356487.9:c.1501C>G	ENSP00000348877.3:p.Gln501Glu
ENST00000415930.7:c.1534C>G	ENSP00000405573.2:p.Gln512Glu
ENST00000586077.1:n.2463C>G
ENST00000586392.1:n.1239C>G
ENST00000586425.1:c.1399-156C>G	ENSP00000467670.2:n.1399-156C>G
ENST00000588991.6:c.1546C>G	ENSP00000465858.2:p.Gln516Glu
ENST00000592740.5:c.193+3088C>G
NM_000175.3:c.1501C>G	NP_000166.2:p.Gln501Glu
NM_001184722.1:c.1534C>G	NP_001171651.1:p.Gln512Glu
NM_001289789.1:c.1618C>G	NP_001276718.1:p.Gln540Glu
NM_001289790.1:c.1417C>G	NP_001276719.1:p.Gln473Glu
XM_005258764.1:c.1501C>G	XP_005258821.1:p.Gln501Glu
XM_006723148.1:c.1501C>G	XP_006723211.1:p.Gln501Glu
XM_011526754.1:c.1618C>G	XP_011525056.1:p.Gln540Glu
NM_000175.5:c.1501C>G MANE Select	NP_000166.2:p.Gln501Glu
NM_001289790.2:c.1417C>G	NP_001276719.1:p.Gln473Glu
NM_001329909.1:c.1501C>G	NP_001316838.1:p.Gln501Glu
NM_001329910.1:c.1501C>G	NP_001316839.1:p.Gln501Glu
NM_001329911.1:c.1474C>G	NP_001316840.1:p.Gln492Glu
XM_011526754.3:c.1618C>G	XP_011525056.1:p.Gln540Glu
NM_001289790.3:c.1417C>G	NP_001276719.1:p.Gln473Glu
NM_001329911.2:c.1474C>G	NP_001316840.1:p.Gln492Glu