Canonical Allele Identifier: CA405246187

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890518A>C (hg19) ; chr19:g.34399613A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399613A>C , CM000681.2:g.34399613A>C	GRCh38
NC_000019.9:g.34890518A>C , CM000681.1:g.34890518A>C	GRCh37
NC_000019.8:g.39582358A>C	NCBI36
NG_012838.2:g.39874A>C
NG_012838.3:g.45022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1456A>C MANE Select	ENSP00000348877.3:p.Met486Leu
ENST00000415930.8:c.1573A>C	ENSP00000405573.3:p.Met525Leu
ENST00000586425.2:c.1158-123A>C
ENST00000588991.7:c.1489A>C	ENSP00000465858.3:p.Met497Leu
ENST00000643067.1:n.2501A>C
ENST00000647446.1:c.*507A>C	ENSP00000495129.1:n.*507A>C
ENST00000356487.9:c.1456A>C	ENSP00000348877.3:p.Met486Leu
ENST00000415930.7:c.1489A>C	ENSP00000405573.2:p.Met497Leu
ENST00000586077.1:n.2331A>C
ENST00000586392.1:n.1194A>C
ENST00000586425.1:c.1398+278A>C	ENSP00000467670.2:n.1398+278A>C
ENST00000588991.6:c.1501A>C	ENSP00000465858.2:p.Met501Leu
ENST00000592740.5:c.193+2956A>C
NM_000175.3:c.1456A>C	NP_000166.2:p.Met486Leu
NM_001184722.1:c.1489A>C	NP_001171651.1:p.Met497Leu
NM_001289789.1:c.1573A>C	NP_001276718.1:p.Met525Leu
NM_001289790.1:c.1372A>C	NP_001276719.1:p.Met458Leu
XM_005258764.1:c.1456A>C	XP_005258821.1:p.Met486Leu
XM_006723148.1:c.1456A>C	XP_006723211.1:p.Met486Leu
XM_011526754.1:c.1573A>C	XP_011525056.1:p.Met525Leu
NM_000175.5:c.1456A>C MANE Select	NP_000166.2:p.Met486Leu
NM_001289790.2:c.1372A>C	NP_001276719.1:p.Met458Leu
NM_001329909.1:c.1456A>C	NP_001316838.1:p.Met486Leu
NM_001329910.1:c.1456A>C	NP_001316839.1:p.Met486Leu
NM_001329911.1:c.1429A>C	NP_001316840.1:p.Met477Leu
XM_011526754.3:c.1573A>C	XP_011525056.1:p.Met525Leu
NM_001289790.3:c.1372A>C	NP_001276719.1:p.Met458Leu
NM_001329911.2:c.1429A>C	NP_001316840.1:p.Met477Leu