Canonical Allele Identifier: CA405246816

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890919A>C (hg19) ; chr19:g.34400014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400014A>C , CM000681.2:g.34400014A>C	GRCh38
NC_000019.9:g.34890919A>C , CM000681.1:g.34890919A>C	GRCh37
NC_000019.8:g.39582759A>C	NCBI36
NG_012838.2:g.40275A>C
NG_012838.3:g.45423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1655A>C MANE Select	ENSP00000348877.3:p.Gln552Pro
ENST00000415930.8:c.1772A>C	ENSP00000405573.3:p.Gln591Pro
ENST00000586425.2:c.1321A>C
ENST00000588991.7:c.1688A>C	ENSP00000465858.3:p.Gln563Pro
ENST00000643067.1:n.2700A>C
ENST00000647446.1:c.*706A>C	ENSP00000495129.1:n.*706A>C
ENST00000356487.9:c.1655A>C	ENSP00000348877.3:p.Gln552Pro
ENST00000415930.7:c.1688A>C	ENSP00000405573.2:p.Gln563Pro
ENST00000586077.1:n.2732A>C
ENST00000586392.1:n.1393A>C
ENST00000586425.1:c.*87A>C	ENSP00000467670.2:n.*87A>C
ENST00000588991.6:c.1700A>C	ENSP00000465858.2:p.Gln567Pro
ENST00000592740.5:c.193+3357A>C
NM_000175.3:c.1655A>C	NP_000166.2:p.Gln552Pro
NM_001184722.1:c.1688A>C	NP_001171651.1:p.Gln563Pro
NM_001289789.1:c.1772A>C	NP_001276718.1:p.Gln591Pro
NM_001289790.1:c.1571A>C	NP_001276719.1:p.Gln524Pro
XM_005258764.1:c.1655A>C	XP_005258821.1:p.Gln552Pro
XM_006723148.1:c.1655A>C	XP_006723211.1:p.Gln552Pro
XM_011526754.1:c.1772A>C	XP_011525056.1:p.Gln591Pro
NM_000175.5:c.1655A>C MANE Select	NP_000166.2:p.Gln552Pro
NM_001289790.2:c.1571A>C	NP_001276719.1:p.Gln524Pro
NM_001329909.1:c.1655A>C	NP_001316838.1:p.Gln552Pro
NM_001329910.1:c.1655A>C	NP_001316839.1:p.Gln552Pro
NM_001329911.1:c.1628A>C	NP_001316840.1:p.Gln543Pro
XM_011526754.3:c.1772A>C	XP_011525056.1:p.Gln591Pro
NM_001289790.3:c.1571A>C	NP_001276719.1:p.Gln524Pro
NM_001329911.2:c.1628A>C	NP_001316840.1:p.Gln543Pro