Canonical Allele Identifier: CA9367451

Gene: GPI

Linked Data

• ClinVar Variation Id: 2338691
• ClinVar RCV Id: RCV002944945
• dbSNP Id: rs762411919
• ExAC: 19:34890628 G / A
• gnomAD v2: 19-34890628-G-A
• gnomAD v3: 19-34399723-G-A
• gnomAD v4: 19-34399723-G-A
• MyVariant Identifiers: chr19:g.34890628G>A (hg19) ; chr19:g.34399723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399723G>A , CM000681.2:g.34399723G>A	GRCh38
NC_000019.9:g.34890628G>A , CM000681.1:g.34890628G>A	GRCh37
NC_000019.8:g.39582468G>A	NCBI36
NG_012838.2:g.39984G>A
NG_012838.3:g.45132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1479G>A MANE Select	ENSP00000348877.3:p.Met493Ile
ENST00000415930.8:c.1596G>A	ENSP00000405573.3:p.Met532Ile
ENST00000586425.2:c.1158-13G>A
ENST00000588991.7:c.1512G>A	ENSP00000465858.3:p.Met504Ile
ENST00000643067.1:n.2524G>A
ENST00000647446.1:c.*530G>A	ENSP00000495129.1:n.*530G>A
ENST00000356487.9:c.1479G>A	ENSP00000348877.3:p.Met493Ile
ENST00000415930.7:c.1512G>A	ENSP00000405573.2:p.Met504Ile
ENST00000586077.1:n.2441G>A
ENST00000586392.1:n.1217G>A
ENST00000586425.1:c.1399-178G>A	ENSP00000467670.2:n.1399-178G>A
ENST00000588991.6:c.1524G>A	ENSP00000465858.2:p.Met508Ile
ENST00000592740.5:c.193+3066G>A
NM_000175.3:c.1479G>A	NP_000166.2:p.Met493Ile
NM_001184722.1:c.1512G>A	NP_001171651.1:p.Met504Ile
NM_001289789.1:c.1596G>A	NP_001276718.1:p.Met532Ile
NM_001289790.1:c.1395G>A	NP_001276719.1:p.Met465Ile
XM_005258764.1:c.1479G>A	XP_005258821.1:p.Met493Ile
XM_006723148.1:c.1479G>A	XP_006723211.1:p.Met493Ile
XM_011526754.1:c.1596G>A	XP_011525056.1:p.Met532Ile
NM_000175.5:c.1479G>A MANE Select	NP_000166.2:p.Met493Ile
NM_001289790.2:c.1395G>A	NP_001276719.1:p.Met465Ile
NM_001329909.1:c.1479G>A	NP_001316838.1:p.Met493Ile
NM_001329910.1:c.1479G>A	NP_001316839.1:p.Met493Ile
NM_001329911.1:c.1452G>A	NP_001316840.1:p.Met484Ile
XM_011526754.3:c.1596G>A	XP_011525056.1:p.Met532Ile
NM_001289790.3:c.1395G>A	NP_001276719.1:p.Met465Ile
NM_001329911.2:c.1452G>A	NP_001316840.1:p.Met484Ile