Canonical Allele Identifier: CA350115710

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191051T>A (hg19) ; chr2:g.208326327T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326327T>A , CM000664.2:g.208326327T>A	GRCh38
NC_000002.11:g.209191051T>A , CM000664.1:g.209191051T>A	GRCh37
NC_000002.10:g.208899296T>A	NCBI36
NG_021188.1:g.65061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3516T>A MANE Select	ENSP00000264380.4:p.His1172Gln
ENST00000264380.8:c.3516T>A	ENSP00000264380.4:p.His1172Gln
ENST00000452564.1:c.3348T>A	ENSP00000405736.1:p.His1116Gln
NM_015040.3:c.3516T>A	NP_055855.2:p.His1172Gln
XM_011510778.1:c.3552T>A	XP_011509080.1:p.His1184Gln
XM_011510779.1:c.3552T>A	XP_011509081.1:p.His1184Gln
XM_011510780.1:c.3549T>A	XP_011509082.1:p.His1183Gln
XM_011510781.1:c.3534T>A	XP_011509083.1:p.His1178Gln
XM_011510782.1:c.3552T>A	XP_011509084.1:p.His1184Gln
XM_011510783.1:c.3384T>A	XP_011509085.1:p.His1128Gln
XM_011510784.1:c.3381T>A	XP_011509086.1:p.His1127Gln
XM_011510785.1:c.3366T>A	XP_011509087.1:p.His1122Gln
XM_011510786.1:c.3261T>A	XP_011509088.1:p.His1087Gln
XM_011510787.1:c.3258T>A	XP_011509089.1:p.His1086Gln
XM_011510788.1:c.3225T>A	XP_011509090.1:p.His1075Gln
XM_011510789.1:c.3075T>A	XP_011509091.1:p.His1025Gln
XM_011510790.1:c.2559T>A	XP_011509092.1:p.His853Gln
XM_011510791.1:c.2559T>A	XP_011509093.1:p.His853Gln
XM_011510792.1:c.3552T>A	XP_011509094.1:p.His1184Gln
XR_922888.1:n.3689T>A
XM_011510778.3:c.3552T>A	XP_011509080.1:p.His1184Gln
XM_011510779.2:c.3552T>A	XP_011509081.1:p.His1184Gln
XM_011510780.2:c.3549T>A	XP_011509082.1:p.His1183Gln
XM_011510781.3:c.3534T>A	XP_011509083.1:p.His1178Gln
XM_011510782.3:c.3552T>A	XP_011509084.1:p.His1184Gln
XM_011510783.3:c.3384T>A	XP_011509085.1:p.His1128Gln
XM_011510784.2:c.3381T>A	XP_011509086.1:p.His1127Gln
XM_011510785.3:c.3366T>A	XP_011509087.1:p.His1122Gln
XM_011510786.3:c.3261T>A	XP_011509088.1:p.His1087Gln
XM_011510789.2:c.3075T>A	XP_011509091.1:p.His1025Gln
XM_011510792.3:c.3552T>A	XP_011509094.1:p.His1184Gln
XM_017003568.1:c.3498T>A	XP_016859057.1:p.His1166Gln
XM_017003569.1:c.3330T>A	XP_016859058.1:p.His1110Gln
XM_017003570.1:c.3057T>A	XP_016859059.1:p.His1019Gln
XM_017003571.1:c.2907T>A	XP_016859060.1:p.His969Gln
XM_017003572.1:c.2559T>A	XP_016859061.1:p.His853Gln
XM_017003573.1:c.2559T>A	XP_016859062.1:p.His853Gln
XM_017003574.1:c.2559T>A	XP_016859063.1:p.His853Gln
NM_015040.4:c.3516T>A MANE Select	NP_055855.2:p.His1172Gln