Canonical Allele Identifier: CA405246744

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890888A>C (hg19) ; chr19:g.34399983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399983A>C , CM000681.2:g.34399983A>C	GRCh38
NC_000019.9:g.34890888A>C , CM000681.1:g.34890888A>C	GRCh37
NC_000019.8:g.39582728A>C	NCBI36
NG_012838.2:g.40244A>C
NG_012838.3:g.45392A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356487.11:c.1624A>C MANE Select	ENSP00000348877.3:p.Thr542Pro
ENST00000415930.8:c.1741A>C	ENSP00000405573.3:p.Thr581Pro
ENST00000586425.2:c.1290A>C
ENST00000588991.7:c.1657A>C	ENSP00000465858.3:p.Thr553Pro
ENST00000643067.1:n.2669A>C
ENST00000647446.1:c.*675A>C	ENSP00000495129.1:n.*675A>C
ENST00000356487.9:c.1624A>C	ENSP00000348877.3:p.Thr542Pro
ENST00000415930.7:c.1657A>C	ENSP00000405573.2:p.Thr553Pro
ENST00000586077.1:n.2701A>C
ENST00000586392.1:n.1362A>C
ENST00000586425.1:c.*56A>C	ENSP00000467670.2:n.*56A>C
ENST00000588991.6:c.1669A>C	ENSP00000465858.2:p.Thr557Pro
ENST00000592740.5:c.193+3326A>C
NM_000175.3:c.1624A>C	NP_000166.2:p.Thr542Pro
NM_001184722.1:c.1657A>C	NP_001171651.1:p.Thr553Pro
NM_001289789.1:c.1741A>C	NP_001276718.1:p.Thr581Pro
NM_001289790.1:c.1540A>C	NP_001276719.1:p.Thr514Pro
XM_005258764.1:c.1624A>C	XP_005258821.1:p.Thr542Pro
XM_006723148.1:c.1624A>C	XP_006723211.1:p.Thr542Pro
XM_011526754.1:c.1741A>C	XP_011525056.1:p.Thr581Pro
NM_000175.5:c.1624A>C MANE Select	NP_000166.2:p.Thr542Pro
NM_001289790.2:c.1540A>C	NP_001276719.1:p.Thr514Pro
NM_001329909.1:c.1624A>C	NP_001316838.1:p.Thr542Pro
NM_001329910.1:c.1624A>C	NP_001316839.1:p.Thr542Pro
NM_001329911.1:c.1597A>C	NP_001316840.1:p.Thr533Pro
XM_011526754.3:c.1741A>C	XP_011525056.1:p.Thr581Pro
NM_001289790.3:c.1540A>C	NP_001276719.1:p.Thr514Pro
NM_001329911.2:c.1597A>C	NP_001316840.1:p.Thr533Pro