Canonical Allele Identifier: CA506999740

Gene: GPI

Linked Data

• COSMIC: COSM6271833 ; COSM6271834
• MyVariant Identifiers: chr19:g.34890496G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399591G>T , CM000681.2:g.34399591G>T	GRCh38
NC_000019.9:g.34890496G>T , CM000681.1:g.34890496G>T	GRCh37
NC_000019.8:g.39582336G>T	NCBI36
NG_012838.2:g.39852G>T
NG_012838.3:g.45000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1434G>T MANE Select	ENSP00000348877.3:p.Val478=
ENST00000415930.8:c.1551G>T	ENSP00000405573.3:p.Val517=
ENST00000586425.2:c.1158-145G>T
ENST00000588991.7:c.1467G>T	ENSP00000465858.3:p.Val489=
ENST00000643067.1:n.2479G>T
ENST00000647446.1:c.*485G>T	ENSP00000495129.1:n.*485G>T
ENST00000356487.9:c.1434G>T	ENSP00000348877.3:p.Val478=
ENST00000415930.7:c.1467G>T	ENSP00000405573.2:p.Val489=
ENST00000586077.1:n.2309G>T
ENST00000586392.1:n.1172G>T
ENST00000586425.1:c.1398+256G>T	ENSP00000467670.2:n.1398+256G>T
ENST00000588991.6:c.1479G>T	ENSP00000465858.2:p.Val493=
ENST00000592740.5:c.193+2934G>T
NM_000175.3:c.1434G>T	NP_000166.2:p.Val478=
NM_001184722.1:c.1467G>T	NP_001171651.1:p.Val489=
NM_001289789.1:c.1551G>T	NP_001276718.1:p.Val517=
NM_001289790.1:c.1350G>T	NP_001276719.1:p.Val450=
XM_005258764.1:c.1434G>T	XP_005258821.1:p.Val478=
XM_006723148.1:c.1434G>T	XP_006723211.1:p.Val478=
XM_011526754.1:c.1551G>T	XP_011525056.1:p.Val517=
NM_000175.5:c.1434G>T MANE Select	NP_000166.2:p.Val478=
NM_001289790.2:c.1350G>T	NP_001276719.1:p.Val450=
NM_001329909.1:c.1434G>T	NP_001316838.1:p.Val478=
NM_001329910.1:c.1434G>T	NP_001316839.1:p.Val478=
NM_001329911.1:c.1407G>T	NP_001316840.1:p.Val469=
XM_011526754.3:c.1551G>T	XP_011525056.1:p.Val517=
NM_001289790.3:c.1350G>T	NP_001276719.1:p.Val450=
NM_001329911.2:c.1407G>T	NP_001316840.1:p.Val469=