Canonical Allele Identifier: CA307634720

Gene: GPI

Linked Data

• dbSNP Id: rs1139454
• gnomAD v4: 19-34399908-C-T
• MyVariant Identifiers: chr19:g.34890813C>T (hg19) ; chr19:g.34399908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399908C>T , CM000681.2:g.34399908C>T	GRCh38
NC_000019.9:g.34890813C>T , CM000681.1:g.34890813C>T	GRCh37
NC_000019.8:g.39582653C>T	NCBI36
NG_012838.2:g.40169C>T
NG_012838.3:g.45317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1549C>T MANE Select	ENSP00000348877.3:p.Leu517=
ENST00000415930.8:c.1666C>T	ENSP00000405573.3:p.Leu556=
ENST00000586425.2:c.1215C>T
ENST00000588991.7:c.1582C>T	ENSP00000465858.3:p.Leu528=
ENST00000643067.1:n.2594C>T
ENST00000647446.1:c.*600C>T	ENSP00000495129.1:n.*600C>T
ENST00000356487.9:c.1549C>T	ENSP00000348877.3:p.Leu517=
ENST00000415930.7:c.1582C>T	ENSP00000405573.2:p.Leu528=
ENST00000586077.1:n.2626C>T
ENST00000586392.1:n.1287C>T
ENST00000586425.1:c.1406C>T	ENSP00000467670.2:p.Ala469Val
ENST00000588991.6:c.1594C>T	ENSP00000465858.2:p.Leu532=
ENST00000592740.5:c.193+3251C>T
NM_000175.3:c.1549C>T	NP_000166.2:p.Leu517=
NM_001184722.1:c.1582C>T	NP_001171651.1:p.Leu528=
NM_001289789.1:c.1666C>T	NP_001276718.1:p.Leu556=
NM_001289790.1:c.1465C>T	NP_001276719.1:p.Leu489=
XM_005258764.1:c.1549C>T	XP_005258821.1:p.Leu517=
XM_006723148.1:c.1549C>T	XP_006723211.1:p.Leu517=
XM_011526754.1:c.1666C>T	XP_011525056.1:p.Leu556=
NM_000175.5:c.1549C>T MANE Select	NP_000166.2:p.Leu517=
NM_001289790.2:c.1465C>T	NP_001276719.1:p.Leu489=
NM_001329909.1:c.1549C>T	NP_001316838.1:p.Leu517=
NM_001329910.1:c.1549C>T	NP_001316839.1:p.Leu517=
NM_001329911.1:c.1522C>T	NP_001316840.1:p.Leu508=
XM_011526754.3:c.1666C>T	XP_011525056.1:p.Leu556=
NM_001289790.3:c.1465C>T	NP_001276719.1:p.Leu489=
NM_001329911.2:c.1522C>T	NP_001316840.1:p.Leu508=