Canonical Allele Identifier: CA9367453

Gene: GPI

Linked Data

• dbSNP Id: rs138799755
• ExAC: 19:34890646 C / A
• gnomAD v2: 19-34890646-C-A
• gnomAD v4: 19-34399741-C-A
• MyVariant Identifiers: chr19:g.34890646C>A (hg19) ; chr19:g.34399741C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399741C>A , CM000681.2:g.34399741C>A	GRCh38
NC_000019.9:g.34890646C>A , CM000681.1:g.34890646C>A	GRCh37
NC_000019.8:g.39582486C>A	NCBI36
NG_012838.2:g.40002C>A
NG_012838.3:g.45150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1497C>A MANE Select	ENSP00000348877.3:p.Phe499Leu
ENST00000415930.8:c.1614C>A	ENSP00000405573.3:p.Phe538Leu
ENST00000586425.2:c.1163C>A
ENST00000588991.7:c.1530C>A	ENSP00000465858.3:p.Phe510Leu
ENST00000643067.1:n.2542C>A
ENST00000647446.1:c.*548C>A	ENSP00000495129.1:n.*548C>A
ENST00000356487.9:c.1497C>A	ENSP00000348877.3:p.Phe499Leu
ENST00000415930.7:c.1530C>A	ENSP00000405573.2:p.Phe510Leu
ENST00000586077.1:n.2459C>A
ENST00000586392.1:n.1235C>A
ENST00000586425.1:c.1399-160C>A	ENSP00000467670.2:n.1399-160C>A
ENST00000588991.6:c.1542C>A	ENSP00000465858.2:p.Phe514Leu
ENST00000592740.5:c.193+3084C>A
NM_000175.3:c.1497C>A	NP_000166.2:p.Phe499Leu
NM_001184722.1:c.1530C>A	NP_001171651.1:p.Phe510Leu
NM_001289789.1:c.1614C>A	NP_001276718.1:p.Phe538Leu
NM_001289790.1:c.1413C>A	NP_001276719.1:p.Phe471Leu
XM_005258764.1:c.1497C>A	XP_005258821.1:p.Phe499Leu
XM_006723148.1:c.1497C>A	XP_006723211.1:p.Phe499Leu
XM_011526754.1:c.1614C>A	XP_011525056.1:p.Phe538Leu
NM_000175.5:c.1497C>A MANE Select	NP_000166.2:p.Phe499Leu
NM_001289790.2:c.1413C>A	NP_001276719.1:p.Phe471Leu
NM_001329909.1:c.1497C>A	NP_001316838.1:p.Phe499Leu
NM_001329910.1:c.1497C>A	NP_001316839.1:p.Phe499Leu
NM_001329911.1:c.1470C>A	NP_001316840.1:p.Phe490Leu
XM_011526754.3:c.1614C>A	XP_011525056.1:p.Phe538Leu
NM_001289790.3:c.1413C>A	NP_001276719.1:p.Phe471Leu
NM_001329911.2:c.1470C>A	NP_001316840.1:p.Phe490Leu