Canonical Allele Identifier: CA405246604

Gene: GPI

Linked Data

• dbSNP Id: rs2074997713
• MyVariant Identifiers: chr19:g.34890822C>T (hg19) ; chr19:g.34399917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399917C>T , CM000681.2:g.34399917C>T	GRCh38
NC_000019.9:g.34890822C>T , CM000681.1:g.34890822C>T	GRCh37
NC_000019.8:g.39582662C>T	NCBI36
NG_012838.2:g.40178C>T
NG_012838.3:g.45326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1558C>T MANE Select	ENSP00000348877.3:p.Gln520Ter
ENST00000415930.8:c.1675C>T	ENSP00000405573.3:p.Gln559Ter
ENST00000586425.2:c.1224C>T
ENST00000588991.7:c.1591C>T	ENSP00000465858.3:p.Gln531Ter
ENST00000643067.1:n.2603C>T
ENST00000647446.1:c.*609C>T	ENSP00000495129.1:n.*609C>T
ENST00000356487.9:c.1558C>T	ENSP00000348877.3:p.Gln520Ter
ENST00000415930.7:c.1591C>T	ENSP00000405573.2:p.Gln531Ter
ENST00000586077.1:n.2635C>T
ENST00000586392.1:n.1296C>T
ENST00000586425.1:c.1415C>T	ENSP00000467670.2:p.Ala472Val
ENST00000588991.6:c.1603C>T	ENSP00000465858.2:p.Gln535Ter
ENST00000592740.5:c.193+3260C>T
NM_000175.3:c.1558C>T	NP_000166.2:p.Gln520Ter
NM_001184722.1:c.1591C>T	NP_001171651.1:p.Gln531Ter
NM_001289789.1:c.1675C>T	NP_001276718.1:p.Gln559Ter
NM_001289790.1:c.1474C>T	NP_001276719.1:p.Gln492Ter
XM_005258764.1:c.1558C>T	XP_005258821.1:p.Gln520Ter
XM_006723148.1:c.1558C>T	XP_006723211.1:p.Gln520Ter
XM_011526754.1:c.1675C>T	XP_011525056.1:p.Gln559Ter
NM_000175.5:c.1558C>T MANE Select	NP_000166.2:p.Gln520Ter
NM_001289790.2:c.1474C>T	NP_001276719.1:p.Gln492Ter
NM_001329909.1:c.1558C>T	NP_001316838.1:p.Gln520Ter
NM_001329910.1:c.1558C>T	NP_001316839.1:p.Gln520Ter
NM_001329911.1:c.1531C>T	NP_001316840.1:p.Gln511Ter
XM_011526754.3:c.1675C>T	XP_011525056.1:p.Gln559Ter
NM_001289790.3:c.1474C>T	NP_001276719.1:p.Gln492Ter
NM_001329911.2:c.1531C>T	NP_001316840.1:p.Gln511Ter