Canonical Allele Identifier: CA405246000

Gene: GPI

Linked Data

• dbSNP Id: rs2074992045
• MyVariant Identifiers: chr19:g.34890483C>A (hg19) ; chr19:g.34399578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399578C>A , CM000681.2:g.34399578C>A	GRCh38
NC_000019.9:g.34890483C>A , CM000681.1:g.34890483C>A	GRCh37
NC_000019.8:g.39582323C>A	NCBI36
NG_012838.2:g.39839C>A
NG_012838.3:g.44987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1421C>A MANE Select	ENSP00000348877.3:p.Thr474Asn
ENST00000415930.8:c.1538C>A	ENSP00000405573.3:p.Thr513Asn
ENST00000586425.2:c.1158-158C>A
ENST00000588991.7:c.1454C>A	ENSP00000465858.3:p.Thr485Asn
ENST00000643067.1:n.2466C>A
ENST00000647446.1:c.*472C>A	ENSP00000495129.1:n.*472C>A
ENST00000356487.9:c.1421C>A	ENSP00000348877.3:p.Thr474Asn
ENST00000415930.7:c.1454C>A	ENSP00000405573.2:p.Thr485Asn
ENST00000586077.1:n.2296C>A
ENST00000586392.1:n.1159C>A
ENST00000586425.1:c.1398+243C>A	ENSP00000467670.2:n.1398+243C>A
ENST00000588991.6:c.1466C>A	ENSP00000465858.2:p.Thr489Asn
ENST00000592740.5:c.193+2921C>A
NM_000175.3:c.1421C>A	NP_000166.2:p.Thr474Asn
NM_001184722.1:c.1454C>A	NP_001171651.1:p.Thr485Asn
NM_001289789.1:c.1538C>A	NP_001276718.1:p.Thr513Asn
NM_001289790.1:c.1337C>A	NP_001276719.1:p.Thr446Asn
XM_005258764.1:c.1421C>A	XP_005258821.1:p.Thr474Asn
XM_006723148.1:c.1421C>A	XP_006723211.1:p.Thr474Asn
XM_011526754.1:c.1538C>A	XP_011525056.1:p.Thr513Asn
NM_000175.5:c.1421C>A MANE Select	NP_000166.2:p.Thr474Asn
NM_001289790.2:c.1337C>A	NP_001276719.1:p.Thr446Asn
NM_001329909.1:c.1421C>A	NP_001316838.1:p.Thr474Asn
NM_001329910.1:c.1421C>A	NP_001316839.1:p.Thr474Asn
NM_001329911.1:c.1394C>A	NP_001316840.1:p.Thr465Asn
XM_011526754.3:c.1538C>A	XP_011525056.1:p.Thr513Asn
NM_001289790.3:c.1337C>A	NP_001276719.1:p.Thr446Asn
NM_001329911.2:c.1394C>A	NP_001316840.1:p.Thr465Asn