Canonical Allele Identifier: CA405246609

Gene: GPI

Linked Data

• gnomAD v4: 19-34399919-G-C
• MyVariant Identifiers: chr19:g.34890824G>C (hg19) ; chr19:g.34399919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399919G>C , CM000681.2:g.34399919G>C	GRCh38
NC_000019.9:g.34890824G>C , CM000681.1:g.34890824G>C	GRCh37
NC_000019.8:g.39582664G>C	NCBI36
NG_012838.2:g.40180G>C
NG_012838.3:g.45328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1560G>C MANE Select	ENSP00000348877.3:p.Gln520His
ENST00000415930.8:c.1677G>C	ENSP00000405573.3:p.Gln559His
ENST00000586425.2:c.1226G>C
ENST00000588991.7:c.1593G>C	ENSP00000465858.3:p.Gln531His
ENST00000643067.1:n.2605G>C
ENST00000647446.1:c.*611G>C	ENSP00000495129.1:n.*611G>C
ENST00000356487.9:c.1560G>C	ENSP00000348877.3:p.Gln520His
ENST00000415930.7:c.1593G>C	ENSP00000405573.2:p.Gln531His
ENST00000586077.1:n.2637G>C
ENST00000586392.1:n.1298G>C
ENST00000586425.1:c.1417G>C	ENSP00000467670.2:p.Ala473Pro
ENST00000588991.6:c.1605G>C	ENSP00000465858.2:p.Gln535His
ENST00000592740.5:c.193+3262G>C
NM_000175.3:c.1560G>C	NP_000166.2:p.Gln520His
NM_001184722.1:c.1593G>C	NP_001171651.1:p.Gln531His
NM_001289789.1:c.1677G>C	NP_001276718.1:p.Gln559His
NM_001289790.1:c.1476G>C	NP_001276719.1:p.Gln492His
XM_005258764.1:c.1560G>C	XP_005258821.1:p.Gln520His
XM_006723148.1:c.1560G>C	XP_006723211.1:p.Gln520His
XM_011526754.1:c.1677G>C	XP_011525056.1:p.Gln559His
NM_000175.5:c.1560G>C MANE Select	NP_000166.2:p.Gln520His
NM_001289790.2:c.1476G>C	NP_001276719.1:p.Gln492His
NM_001329909.1:c.1560G>C	NP_001316838.1:p.Gln520His
NM_001329910.1:c.1560G>C	NP_001316839.1:p.Gln520His
NM_001329911.1:c.1533G>C	NP_001316840.1:p.Gln511His
XM_011526754.3:c.1677G>C	XP_011525056.1:p.Gln559His
NM_001289790.3:c.1476G>C	NP_001276719.1:p.Gln492His
NM_001329911.2:c.1533G>C	NP_001316840.1:p.Gln511His