Canonical Allele Identifier: CA405246143

Gene: GPI

Linked Data

• gnomAD v4: 19-34399604-A-T
• MyVariant Identifiers: chr19:g.34890509A>T (hg19) ; chr19:g.34399604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399604A>T , CM000681.2:g.34399604A>T	GRCh38
NC_000019.9:g.34890509A>T , CM000681.1:g.34890509A>T	GRCh37
NC_000019.8:g.39582349A>T	NCBI36
NG_012838.2:g.39865A>T
NG_012838.3:g.45013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1447A>T MANE Select	ENSP00000348877.3:p.Thr483Ser
ENST00000415930.8:c.1564A>T	ENSP00000405573.3:p.Thr522Ser
ENST00000586425.2:c.1158-132A>T
ENST00000588991.7:c.1480A>T	ENSP00000465858.3:p.Thr494Ser
ENST00000643067.1:n.2492A>T
ENST00000647446.1:c.*498A>T	ENSP00000495129.1:n.*498A>T
ENST00000356487.9:c.1447A>T	ENSP00000348877.3:p.Thr483Ser
ENST00000415930.7:c.1480A>T	ENSP00000405573.2:p.Thr494Ser
ENST00000586077.1:n.2322A>T
ENST00000586392.1:n.1185A>T
ENST00000586425.1:c.1398+269A>T	ENSP00000467670.2:n.1398+269A>T
ENST00000588991.6:c.1492A>T	ENSP00000465858.2:p.Thr498Ser
ENST00000592740.5:c.193+2947A>T
NM_000175.3:c.1447A>T	NP_000166.2:p.Thr483Ser
NM_001184722.1:c.1480A>T	NP_001171651.1:p.Thr494Ser
NM_001289789.1:c.1564A>T	NP_001276718.1:p.Thr522Ser
NM_001289790.1:c.1363A>T	NP_001276719.1:p.Thr455Ser
XM_005258764.1:c.1447A>T	XP_005258821.1:p.Thr483Ser
XM_006723148.1:c.1447A>T	XP_006723211.1:p.Thr483Ser
XM_011526754.1:c.1564A>T	XP_011525056.1:p.Thr522Ser
NM_000175.5:c.1447A>T MANE Select	NP_000166.2:p.Thr483Ser
NM_001289790.2:c.1363A>T	NP_001276719.1:p.Thr455Ser
NM_001329909.1:c.1447A>T	NP_001316838.1:p.Thr483Ser
NM_001329910.1:c.1447A>T	NP_001316839.1:p.Thr483Ser
NM_001329911.1:c.1420A>T	NP_001316840.1:p.Thr474Ser
XM_011526754.3:c.1564A>T	XP_011525056.1:p.Thr522Ser
NM_001289790.3:c.1363A>T	NP_001276719.1:p.Thr455Ser
NM_001329911.2:c.1420A>T	NP_001316840.1:p.Thr474Ser