Canonical Allele Identifier: CA2814215040

Gene: GPI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399652T>C , CM000681.2:g.34399652T>C	GRCh38
NC_000019.9:g.34890557T>C , CM000681.1:g.34890557T>C	GRCh37
NC_000019.8:g.39582397T>C	NCBI36
NG_012838.2:g.39913T>C
NG_012838.3:g.45061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1474+21T>C MANE Select	ENSP00000348877.3:n.1474+21T>C
ENST00000415930.8:c.1591+21T>C	ENSP00000405573.3:n.1591+21T>C
ENST00000586425.2:c.1158-84T>C
ENST00000588991.7:c.1507+21T>C	ENSP00000465858.3:n.1507+21T>C
ENST00000643067.1:n.2519+21T>C
ENST00000647446.1:c.*525+21T>C	ENSP00000495129.1:n.*525+21T>C
ENST00000356487.9:c.1474+21T>C	ENSP00000348877.3:n.1474+21T>C
ENST00000415930.7:c.1507+21T>C	ENSP00000405573.2:n.1507+21T>C
ENST00000586077.1:n.2370T>C
ENST00000586392.1:n.1212+21T>C
ENST00000586425.1:c.1399-249T>C	ENSP00000467670.2:n.1399-249T>C
ENST00000588991.6:c.1519+21T>C	ENSP00000465858.2:n.1519+21T>C
ENST00000592740.5:c.193+2995T>C
NM_000175.3:c.1474+21T>C	NP_000166.2:n.1474+21T>C
NM_001184722.1:c.1507+21T>C	NP_001171651.1:n.1507+21T>C
NM_001289789.1:c.1591+21T>C	NP_001276718.1:n.1591+21T>C
NM_001289790.1:c.1390+21T>C	NP_001276719.1:n.1390+21T>C
XM_005258764.1:c.1474+21T>C	XP_005258821.1:n.1474+21T>C
XM_006723148.1:c.1474+21T>C	XP_006723211.1:n.1474+21T>C
XM_011526754.1:c.1591+21T>C	XP_011525056.1:n.1591+21T>C
NM_000175.5:c.1474+21T>C MANE Select	NP_000166.2:n.1474+21T>C
NM_001289790.2:c.1390+21T>C	NP_001276719.1:n.1390+21T>C
NM_001329909.1:c.1474+21T>C	NP_001316838.1:n.1474+21T>C
NM_001329910.1:c.1474+21T>C	NP_001316839.1:n.1474+21T>C
NM_001329911.1:c.1447+21T>C	NP_001316840.1:n.1447+21T>C
XM_011526754.3:c.1591+21T>C	XP_011525056.1:n.1591+21T>C
NM_001289790.3:c.1390+21T>C	NP_001276719.1:n.1390+21T>C
NM_001329911.2:c.1447+21T>C	NP_001316840.1:n.1447+21T>C