Canonical Allele Identifier: CA405246154

Gene: GPI

Linked Data

• dbSNP Id: rs1201396193
• gnomAD v2: 19-34890512-C-A
• gnomAD v4: 19-34399607-C-A
• MyVariant Identifiers: chr19:g.34890512C>A (hg19) ; chr19:g.34399607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399607C>A , CM000681.2:g.34399607C>A	GRCh38
NC_000019.9:g.34890512C>A , CM000681.1:g.34890512C>A	GRCh37
NC_000019.8:g.39582352C>A	NCBI36
NG_012838.2:g.39868C>A
NG_012838.3:g.45016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1450C>A MANE Select	ENSP00000348877.3:p.Pro484Thr
ENST00000415930.8:c.1567C>A	ENSP00000405573.3:p.Pro523Thr
ENST00000586425.2:c.1158-129C>A
ENST00000588991.7:c.1483C>A	ENSP00000465858.3:p.Pro495Thr
ENST00000643067.1:n.2495C>A
ENST00000647446.1:c.*501C>A	ENSP00000495129.1:n.*501C>A
ENST00000356487.9:c.1450C>A	ENSP00000348877.3:p.Pro484Thr
ENST00000415930.7:c.1483C>A	ENSP00000405573.2:p.Pro495Thr
ENST00000586077.1:n.2325C>A
ENST00000586392.1:n.1188C>A
ENST00000586425.1:c.1398+272C>A	ENSP00000467670.2:n.1398+272C>A
ENST00000588991.6:c.1495C>A	ENSP00000465858.2:p.Pro499Thr
ENST00000592740.5:c.193+2950C>A
NM_000175.3:c.1450C>A	NP_000166.2:p.Pro484Thr
NM_001184722.1:c.1483C>A	NP_001171651.1:p.Pro495Thr
NM_001289789.1:c.1567C>A	NP_001276718.1:p.Pro523Thr
NM_001289790.1:c.1366C>A	NP_001276719.1:p.Pro456Thr
XM_005258764.1:c.1450C>A	XP_005258821.1:p.Pro484Thr
XM_006723148.1:c.1450C>A	XP_006723211.1:p.Pro484Thr
XM_011526754.1:c.1567C>A	XP_011525056.1:p.Pro523Thr
NM_000175.5:c.1450C>A MANE Select	NP_000166.2:p.Pro484Thr
NM_001289790.2:c.1366C>A	NP_001276719.1:p.Pro456Thr
NM_001329909.1:c.1450C>A	NP_001316838.1:p.Pro484Thr
NM_001329910.1:c.1450C>A	NP_001316839.1:p.Pro484Thr
NM_001329911.1:c.1423C>A	NP_001316840.1:p.Pro475Thr
XM_011526754.3:c.1567C>A	XP_011525056.1:p.Pro523Thr
NM_001289790.3:c.1366C>A	NP_001276719.1:p.Pro456Thr
NM_001329911.2:c.1423C>A	NP_001316840.1:p.Pro475Thr