Canonical Allele Identifier: CA9367508

Gene: GPI

Linked Data

• dbSNP Id: rs771817899
• ExAC: 19:34890938 A / G
• gnomAD v2: 19-34890938-A-G
• MyVariant Identifiers: chr19:g.34890938A>G (hg19) ; chr19:g.34400033A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400033A>G , CM000681.2:g.34400033A>G	GRCh38
NC_000019.9:g.34890938A>G , CM000681.1:g.34890938A>G	GRCh37
NC_000019.8:g.39582778A>G	NCBI36
NG_012838.2:g.40294A>G
NG_012838.3:g.45442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1674A>G MANE Select	ENSP00000348877.3:p.Gln558=
ENST00000415930.8:c.1791A>G	ENSP00000405573.3:p.Gln597=
ENST00000586425.2:c.1340A>G
ENST00000588991.7:c.1707A>G	ENSP00000465858.3:p.Gln569=
ENST00000643067.1:n.2719A>G
ENST00000647446.1:c.*725A>G	ENSP00000495129.1:n.*725A>G
ENST00000356487.9:c.1674A>G	ENSP00000348877.3:p.Gln558=
ENST00000415930.7:c.1707A>G	ENSP00000405573.2:p.Gln569=
ENST00000586077.1:n.2751A>G
ENST00000586392.1:n.1412A>G
ENST00000586425.1:c.*106A>G	ENSP00000467670.2:n.*106A>G
ENST00000588991.6:c.1719A>G	ENSP00000465858.2:p.Gln573=
ENST00000592740.5:c.193+3376A>G
NM_000175.3:c.1674A>G	NP_000166.2:p.Gln558=
NM_001184722.1:c.1707A>G	NP_001171651.1:p.Gln569=
NM_001289789.1:c.1791A>G	NP_001276718.1:p.Gln597=
NM_001289790.1:c.1590A>G	NP_001276719.1:p.Gln530=
XM_005258764.1:c.1674A>G	XP_005258821.1:p.Gln558=
XM_006723148.1:c.1674A>G	XP_006723211.1:p.Gln558=
XM_011526754.1:c.1791A>G	XP_011525056.1:p.Gln597=
NM_000175.5:c.1674A>G MANE Select	NP_000166.2:p.Gln558=
NM_001289790.2:c.1590A>G	NP_001276719.1:p.Gln530=
NM_001329909.1:c.1674A>G	NP_001316838.1:p.Gln558=
NM_001329910.1:c.1674A>G	NP_001316839.1:p.Gln558=
NM_001329911.1:c.1647A>G	NP_001316840.1:p.Gln549=
XM_011526754.3:c.1791A>G	XP_011525056.1:p.Gln597=
NM_001289790.3:c.1590A>G	NP_001276719.1:p.Gln530=
NM_001329911.2:c.1647A>G	NP_001316840.1:p.Gln549=