Canonical Allele Identifier: CA307634836

Gene: GPI

Linked Data

• dbSNP Id: rs547475819
• gnomAD v3: 19-34399977-G-C
• gnomAD v4: 19-34399977-G-C
• MyVariant Identifiers: chr19:g.34890882G>C (hg19) ; chr19:g.34399977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399977G>C , CM000681.2:g.34399977G>C	GRCh38
NC_000019.9:g.34890882G>C , CM000681.1:g.34890882G>C	GRCh37
NC_000019.8:g.39582722G>C	NCBI36
NG_012838.2:g.40238G>C
NG_012838.3:g.45386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356487.11:c.1618G>C MANE Select	ENSP00000348877.3:p.Ala540Pro
ENST00000415930.8:c.1735G>C	ENSP00000405573.3:p.Ala579Pro
ENST00000586425.2:c.1284G>C
ENST00000588991.7:c.1651G>C	ENSP00000465858.3:p.Ala551Pro
ENST00000643067.1:n.2663G>C
ENST00000647446.1:c.*669G>C	ENSP00000495129.1:n.*669G>C
ENST00000356487.9:c.1618G>C	ENSP00000348877.3:p.Ala540Pro
ENST00000415930.7:c.1651G>C	ENSP00000405573.2:p.Ala551Pro
ENST00000586077.1:n.2695G>C
ENST00000586392.1:n.1356G>C
ENST00000586425.1:c.*50G>C	ENSP00000467670.2:n.*50G>C
ENST00000588991.6:c.1663G>C	ENSP00000465858.2:p.Ala555Pro
ENST00000592740.5:c.193+3320G>C
NM_000175.3:c.1618G>C	NP_000166.2:p.Ala540Pro
NM_001184722.1:c.1651G>C	NP_001171651.1:p.Ala551Pro
NM_001289789.1:c.1735G>C	NP_001276718.1:p.Ala579Pro
NM_001289790.1:c.1534G>C	NP_001276719.1:p.Ala512Pro
XM_005258764.1:c.1618G>C	XP_005258821.1:p.Ala540Pro
XM_006723148.1:c.1618G>C	XP_006723211.1:p.Ala540Pro
XM_011526754.1:c.1735G>C	XP_011525056.1:p.Ala579Pro
NM_000175.5:c.1618G>C MANE Select	NP_000166.2:p.Ala540Pro
NM_001289790.2:c.1534G>C	NP_001276719.1:p.Ala512Pro
NM_001329909.1:c.1618G>C	NP_001316838.1:p.Ala540Pro
NM_001329910.1:c.1618G>C	NP_001316839.1:p.Ala540Pro
NM_001329911.1:c.1591G>C	NP_001316840.1:p.Ala531Pro
XM_011526754.3:c.1735G>C	XP_011525056.1:p.Ala579Pro
NM_001289790.3:c.1534G>C	NP_001276719.1:p.Ala512Pro
NM_001329911.2:c.1591G>C	NP_001316840.1:p.Ala531Pro