Canonical Allele Identifier: CA307634753

Gene: GPI

Linked Data

• dbSNP Id: rs146468881
• gnomAD v2: 19-34890843-C-G
• gnomAD v3: 19-34399938-C-G
• gnomAD v4: 19-34399938-C-G
• MyVariant Identifiers: chr19:g.34890843C>G (hg19) ; chr19:g.34399938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399938C>G , CM000681.2:g.34399938C>G	GRCh38
NC_000019.9:g.34890843C>G , CM000681.1:g.34890843C>G	GRCh37
NC_000019.8:g.39582683C>G	NCBI36
NG_012838.2:g.40199C>G
NG_012838.3:g.45347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1579C>G MANE Select	ENSP00000348877.3:p.Pro527Ala
ENST00000415930.8:c.1696C>G	ENSP00000405573.3:p.Pro566Ala
ENST00000586425.2:c.1245C>G
ENST00000588991.7:c.1612C>G	ENSP00000465858.3:p.Pro538Ala
ENST00000643067.1:n.2624C>G
ENST00000647446.1:c.*630C>G	ENSP00000495129.1:n.*630C>G
ENST00000356487.9:c.1579C>G	ENSP00000348877.3:p.Pro527Ala
ENST00000415930.7:c.1612C>G	ENSP00000405573.2:p.Pro538Ala
ENST00000586077.1:n.2656C>G
ENST00000586392.1:n.1317C>G
ENST00000586425.1:c.*11C>G	ENSP00000467670.2:n.*11C>G
ENST00000588991.6:c.1624C>G	ENSP00000465858.2:p.Pro542Ala
ENST00000592740.5:c.193+3281C>G
NM_000175.3:c.1579C>G	NP_000166.2:p.Pro527Ala
NM_001184722.1:c.1612C>G	NP_001171651.1:p.Pro538Ala
NM_001289789.1:c.1696C>G	NP_001276718.1:p.Pro566Ala
NM_001289790.1:c.1495C>G	NP_001276719.1:p.Pro499Ala
XM_005258764.1:c.1579C>G	XP_005258821.1:p.Pro527Ala
XM_006723148.1:c.1579C>G	XP_006723211.1:p.Pro527Ala
XM_011526754.1:c.1696C>G	XP_011525056.1:p.Pro566Ala
NM_000175.5:c.1579C>G MANE Select	NP_000166.2:p.Pro527Ala
NM_001289790.2:c.1495C>G	NP_001276719.1:p.Pro499Ala
NM_001329909.1:c.1579C>G	NP_001316838.1:p.Pro527Ala
NM_001329910.1:c.1579C>G	NP_001316839.1:p.Pro527Ala
NM_001329911.1:c.1552C>G	NP_001316840.1:p.Pro518Ala
XM_011526754.3:c.1696C>G	XP_011525056.1:p.Pro566Ala
NM_001289790.3:c.1495C>G	NP_001276719.1:p.Pro499Ala
NM_001329911.2:c.1552C>G	NP_001316840.1:p.Pro518Ala