Canonical Allele Identifier: CA405246537

Gene: GPI

Linked Data

• dbSNP Id: rs748351617
• gnomAD v4: 19-34399782-G-T
• MyVariant Identifiers: chr19:g.34890687G>T (hg19) ; chr19:g.34399782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399782G>T , CM000681.2:g.34399782G>T	GRCh38
NC_000019.9:g.34890687G>T , CM000681.1:g.34890687G>T	GRCh37
NC_000019.8:g.39582527G>T	NCBI36
NG_012838.2:g.40043G>T
NG_012838.3:g.45191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1538G>T MANE Select	ENSP00000348877.3:p.Trp513Leu
ENST00000415930.8:c.1655G>T	ENSP00000405573.3:p.Trp552Leu
ENST00000586425.2:c.1204G>T
ENST00000588991.7:c.1571G>T	ENSP00000465858.3:p.Trp524Leu
ENST00000643067.1:n.2583G>T
ENST00000647446.1:c.*589G>T	ENSP00000495129.1:n.*589G>T
ENST00000356487.9:c.1538G>T	ENSP00000348877.3:p.Trp513Leu
ENST00000415930.7:c.1571G>T	ENSP00000405573.2:p.Trp524Leu
ENST00000586077.1:n.2500G>T
ENST00000586392.1:n.1276G>T
ENST00000586425.1:c.1399-119G>T	ENSP00000467670.2:n.1399-119G>T
ENST00000588991.6:c.1583G>T	ENSP00000465858.2:p.Trp528Leu
ENST00000592740.5:c.193+3125G>T
NM_000175.3:c.1538G>T	NP_000166.2:p.Trp513Leu
NM_001184722.1:c.1571G>T	NP_001171651.1:p.Trp524Leu
NM_001289789.1:c.1655G>T	NP_001276718.1:p.Trp552Leu
NM_001289790.1:c.1454G>T	NP_001276719.1:p.Trp485Leu
XM_005258764.1:c.1538G>T	XP_005258821.1:p.Trp513Leu
XM_006723148.1:c.1538G>T	XP_006723211.1:p.Trp513Leu
XM_011526754.1:c.1655G>T	XP_011525056.1:p.Trp552Leu
NM_000175.5:c.1538G>T MANE Select	NP_000166.2:p.Trp513Leu
NM_001289790.2:c.1454G>T	NP_001276719.1:p.Trp485Leu
NM_001329909.1:c.1538G>T	NP_001316838.1:p.Trp513Leu
NM_001329910.1:c.1538G>T	NP_001316839.1:p.Trp513Leu
NM_001329911.1:c.1511G>T	NP_001316840.1:p.Trp504Leu
XM_011526754.3:c.1655G>T	XP_011525056.1:p.Trp552Leu
NM_001289790.3:c.1454G>T	NP_001276719.1:p.Trp485Leu
NM_001329911.2:c.1511G>T	NP_001316840.1:p.Trp504Leu