Canonical Allele Identifier: CA633055885

Gene: GPI

Linked Data

• dbSNP Id: rs919397584
• gnomAD v2: 19-34890707-G-C
• MyVariant Identifiers: chr19:g.34890707G>C (hg19) ; chr19:g.34399802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399802G>C , CM000681.2:g.34399802G>C	GRCh38
NC_000019.9:g.34890707G>C , CM000681.1:g.34890707G>C	GRCh37
NC_000019.8:g.39582547G>C	NCBI36
NG_012838.2:g.40063G>C
NG_012838.3:g.45211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1541+17G>C MANE Select	ENSP00000348877.3:n.1541+17G>C
ENST00000415930.8:c.1658+17G>C	ENSP00000405573.3:n.1658+17G>C
ENST00000586425.2:c.1207+17G>C
ENST00000588991.7:c.1574+17G>C	ENSP00000465858.3:n.1574+17G>C
ENST00000643067.1:n.2586+17G>C
ENST00000647446.1:c.*592+17G>C	ENSP00000495129.1:n.*592+17G>C
ENST00000356487.9:c.1541+17G>C	ENSP00000348877.3:n.1541+17G>C
ENST00000415930.7:c.1574+17G>C	ENSP00000405573.2:n.1574+17G>C
ENST00000586077.1:n.2520G>C
ENST00000586392.1:n.1279+17G>C
ENST00000586425.1:c.1399-99G>C	ENSP00000467670.2:n.1399-99G>C
ENST00000588991.6:c.1586+17G>C	ENSP00000465858.2:n.1586+17G>C
ENST00000592740.5:c.193+3145G>C
NM_000175.3:c.1541+17G>C	NP_000166.2:n.1541+17G>C
NM_001184722.1:c.1574+17G>C	NP_001171651.1:n.1574+17G>C
NM_001289789.1:c.1658+17G>C	NP_001276718.1:n.1658+17G>C
NM_001289790.1:c.1457+17G>C	NP_001276719.1:n.1457+17G>C
XM_005258764.1:c.1541+17G>C	XP_005258821.1:n.1541+17G>C
XM_006723148.1:c.1541+17G>C	XP_006723211.1:n.1541+17G>C
XM_011526754.1:c.1658+17G>C	XP_011525056.1:n.1658+17G>C
NM_000175.5:c.1541+17G>C MANE Select	NP_000166.2:n.1541+17G>C
NM_001289790.2:c.1457+17G>C	NP_001276719.1:n.1457+17G>C
NM_001329909.1:c.1541+17G>C	NP_001316838.1:n.1541+17G>C
NM_001329910.1:c.1541+17G>C	NP_001316839.1:n.1541+17G>C
NM_001329911.1:c.1514+17G>C	NP_001316840.1:n.1514+17G>C
XM_011526754.3:c.1658+17G>C	XP_011525056.1:n.1658+17G>C
NM_001289790.3:c.1457+17G>C	NP_001276719.1:n.1457+17G>C
NM_001329911.2:c.1514+17G>C	NP_001316840.1:n.1514+17G>C