Canonical Allele Identifier: CA405246137

Gene: GPI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1447A>C MANE Select	ENSP00000348877.3:p.Thr483Pro
ENST00000415930.8:c.1564A>C	ENSP00000405573.3:p.Thr522Pro
ENST00000586425.2:c.1158-132A>C
ENST00000588991.7:c.1480A>C	ENSP00000465858.3:p.Thr494Pro
ENST00000643067.1:n.2492A>C
ENST00000647446.1:c.*498A>C	ENSP00000495129.1:n.*498A>C
ENST00000356487.9:c.1447A>C	ENSP00000348877.3:p.Thr483Pro
ENST00000415930.7:c.1480A>C	ENSP00000405573.2:p.Thr494Pro
ENST00000586077.1:n.2322A>C
ENST00000586392.1:n.1185A>C
ENST00000586425.1:c.1398+269A>C	ENSP00000467670.2:n.1398+269A>C
ENST00000588991.6:c.1492A>C	ENSP00000465858.2:p.Thr498Pro
ENST00000592740.5:c.193+2947A>C
NM_000175.3:c.1447A>C	NP_000166.2:p.Thr483Pro
NM_001184722.1:c.1480A>C	NP_001171651.1:p.Thr494Pro
NM_001289789.1:c.1564A>C	NP_001276718.1:p.Thr522Pro
NM_001289790.1:c.1363A>C	NP_001276719.1:p.Thr455Pro
XM_005258764.1:c.1447A>C	XP_005258821.1:p.Thr483Pro
XM_006723148.1:c.1447A>C	XP_006723211.1:p.Thr483Pro
XM_011526754.1:c.1564A>C	XP_011525056.1:p.Thr522Pro
NM_000175.5:c.1447A>C MANE Select	NP_000166.2:p.Thr483Pro
NM_001289790.2:c.1363A>C	NP_001276719.1:p.Thr455Pro
NM_001329909.1:c.1447A>C	NP_001316838.1:p.Thr483Pro
NM_001329910.1:c.1447A>C	NP_001316839.1:p.Thr483Pro
NM_001329911.1:c.1420A>C	NP_001316840.1:p.Thr474Pro
XM_011526754.3:c.1564A>C	XP_011525056.1:p.Thr522Pro
NM_001289790.3:c.1363A>C	NP_001276719.1:p.Thr455Pro
NM_001329911.2:c.1420A>C	NP_001316840.1:p.Thr474Pro