Canonical Allele Identifier: CA405246354

Gene: GPI

Linked Data

• gnomAD v4: 19-34399722-T-A
• MyVariant Identifiers: chr19:g.34890627T>A (hg19) ; chr19:g.34399722T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399722T>A , CM000681.2:g.34399722T>A	GRCh38
NC_000019.9:g.34890627T>A , CM000681.1:g.34890627T>A	GRCh37
NC_000019.8:g.39582467T>A	NCBI36
NG_012838.2:g.39983T>A
NG_012838.3:g.45131T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1478T>A MANE Select	ENSP00000348877.3:p.Met493Lys
ENST00000415930.8:c.1595T>A	ENSP00000405573.3:p.Met532Lys
ENST00000586425.2:c.1158-14T>A
ENST00000588991.7:c.1511T>A	ENSP00000465858.3:p.Met504Lys
ENST00000643067.1:n.2523T>A
ENST00000647446.1:c.*529T>A	ENSP00000495129.1:n.*529T>A
ENST00000356487.9:c.1478T>A	ENSP00000348877.3:p.Met493Lys
ENST00000415930.7:c.1511T>A	ENSP00000405573.2:p.Met504Lys
ENST00000586077.1:n.2440T>A
ENST00000586392.1:n.1216T>A
ENST00000586425.1:c.1399-179T>A	ENSP00000467670.2:n.1399-179T>A
ENST00000588991.6:c.1523T>A	ENSP00000465858.2:p.Met508Lys
ENST00000592740.5:c.193+3065T>A
NM_000175.3:c.1478T>A	NP_000166.2:p.Met493Lys
NM_001184722.1:c.1511T>A	NP_001171651.1:p.Met504Lys
NM_001289789.1:c.1595T>A	NP_001276718.1:p.Met532Lys
NM_001289790.1:c.1394T>A	NP_001276719.1:p.Met465Lys
XM_005258764.1:c.1478T>A	XP_005258821.1:p.Met493Lys
XM_006723148.1:c.1478T>A	XP_006723211.1:p.Met493Lys
XM_011526754.1:c.1595T>A	XP_011525056.1:p.Met532Lys
NM_000175.5:c.1478T>A MANE Select	NP_000166.2:p.Met493Lys
NM_001289790.2:c.1394T>A	NP_001276719.1:p.Met465Lys
NM_001329909.1:c.1478T>A	NP_001316838.1:p.Met493Lys
NM_001329910.1:c.1478T>A	NP_001316839.1:p.Met493Lys
NM_001329911.1:c.1451T>A	NP_001316840.1:p.Met484Lys
XM_011526754.3:c.1595T>A	XP_011525056.1:p.Met532Lys
NM_001289790.3:c.1394T>A	NP_001276719.1:p.Met465Lys
NM_001329911.2:c.1451T>A	NP_001316840.1:p.Met484Lys