Canonical Allele Identifier: CA405246270

Gene: GPI

Linked Data

• COSMIC: COSM6286340 ; COSM6286341
• MyVariant Identifiers: chr19:g.34890532G>T (hg19) ; chr19:g.34399627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399627G>T , CM000681.2:g.34399627G>T	GRCh38
NC_000019.9:g.34890532G>T , CM000681.1:g.34890532G>T	GRCh37
NC_000019.8:g.39582372G>T	NCBI36
NG_012838.2:g.39888G>T
NG_012838.3:g.45036G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1470G>T MANE Select	ENSP00000348877.3:p.Leu490Phe
ENST00000415930.8:c.1587G>T	ENSP00000405573.3:p.Leu529Phe
ENST00000586425.2:c.1158-109G>T
ENST00000588991.7:c.1503G>T	ENSP00000465858.3:p.Leu501Phe
ENST00000643067.1:n.2515G>T
ENST00000647446.1:c.*521G>T	ENSP00000495129.1:n.*521G>T
ENST00000356487.9:c.1470G>T	ENSP00000348877.3:p.Leu490Phe
ENST00000415930.7:c.1503G>T	ENSP00000405573.2:p.Leu501Phe
ENST00000586077.1:n.2345G>T
ENST00000586392.1:n.1208G>T
ENST00000586425.1:c.1399-274G>T	ENSP00000467670.2:n.1399-274G>T
ENST00000588991.6:c.1515G>T	ENSP00000465858.2:p.Leu505Phe
ENST00000592740.5:c.193+2970G>T
NM_000175.3:c.1470G>T	NP_000166.2:p.Leu490Phe
NM_001184722.1:c.1503G>T	NP_001171651.1:p.Leu501Phe
NM_001289789.1:c.1587G>T	NP_001276718.1:p.Leu529Phe
NM_001289790.1:c.1386G>T	NP_001276719.1:p.Leu462Phe
XM_005258764.1:c.1470G>T	XP_005258821.1:p.Leu490Phe
XM_006723148.1:c.1470G>T	XP_006723211.1:p.Leu490Phe
XM_011526754.1:c.1587G>T	XP_011525056.1:p.Leu529Phe
NM_000175.5:c.1470G>T MANE Select	NP_000166.2:p.Leu490Phe
NM_001289790.2:c.1386G>T	NP_001276719.1:p.Leu462Phe
NM_001329909.1:c.1470G>T	NP_001316838.1:p.Leu490Phe
NM_001329910.1:c.1470G>T	NP_001316839.1:p.Leu490Phe
NM_001329911.1:c.1443G>T	NP_001316840.1:p.Leu481Phe
XM_011526754.3:c.1587G>T	XP_011525056.1:p.Leu529Phe
NM_001289790.3:c.1386G>T	NP_001276719.1:p.Leu462Phe
NM_001329911.2:c.1443G>T	NP_001316840.1:p.Leu481Phe