Canonical Allele Identifier: CA431117709

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1348740829
• gnomAD v4: 2-208326234-T-C
• MyVariant Identifiers: chr2:g.209190958T>C (hg19) ; chr2:g.208326234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326234T>C , CM000664.2:g.208326234T>C	GRCh38
NC_000002.11:g.209190958T>C , CM000664.1:g.209190958T>C	GRCh37
NC_000002.10:g.208899203T>C	NCBI36
NG_021188.1:g.64968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3423T>C MANE Select	ENSP00000264380.4:p.His1141=
ENST00000264380.8:c.3423T>C	ENSP00000264380.4:p.His1141=
ENST00000452564.1:c.3255T>C	ENSP00000405736.1:p.His1085=
NM_015040.3:c.3423T>C	NP_055855.2:p.His1141=
XM_011510778.1:c.3459T>C	XP_011509080.1:p.His1153=
XM_011510779.1:c.3459T>C	XP_011509081.1:p.His1153=
XM_011510780.1:c.3456T>C	XP_011509082.1:p.His1152=
XM_011510781.1:c.3441T>C	XP_011509083.1:p.His1147=
XM_011510782.1:c.3459T>C	XP_011509084.1:p.His1153=
XM_011510783.1:c.3291T>C	XP_011509085.1:p.His1097=
XM_011510784.1:c.3288T>C	XP_011509086.1:p.His1096=
XM_011510785.1:c.3273T>C	XP_011509087.1:p.His1091=
XM_011510786.1:c.3168T>C	XP_011509088.1:p.His1056=
XM_011510787.1:c.3165T>C	XP_011509089.1:p.His1055=
XM_011510788.1:c.3132T>C	XP_011509090.1:p.His1044=
XM_011510789.1:c.2982T>C	XP_011509091.1:p.His994=
XM_011510790.1:c.2466T>C	XP_011509092.1:p.His822=
XM_011510791.1:c.2466T>C	XP_011509093.1:p.His822=
XM_011510792.1:c.3459T>C	XP_011509094.1:p.His1153=
XR_922888.1:n.3596T>C
XM_011510778.3:c.3459T>C	XP_011509080.1:p.His1153=
XM_011510779.2:c.3459T>C	XP_011509081.1:p.His1153=
XM_011510780.2:c.3456T>C	XP_011509082.1:p.His1152=
XM_011510781.3:c.3441T>C	XP_011509083.1:p.His1147=
XM_011510782.3:c.3459T>C	XP_011509084.1:p.His1153=
XM_011510783.3:c.3291T>C	XP_011509085.1:p.His1097=
XM_011510784.2:c.3288T>C	XP_011509086.1:p.His1096=
XM_011510785.3:c.3273T>C	XP_011509087.1:p.His1091=
XM_011510786.3:c.3168T>C	XP_011509088.1:p.His1056=
XM_011510789.2:c.2982T>C	XP_011509091.1:p.His994=
XM_011510792.3:c.3459T>C	XP_011509094.1:p.His1153=
XM_017003568.1:c.3405T>C	XP_016859057.1:p.His1135=
XM_017003569.1:c.3237T>C	XP_016859058.1:p.His1079=
XM_017003570.1:c.2964T>C	XP_016859059.1:p.His988=
XM_017003571.1:c.2814T>C	XP_016859060.1:p.His938=
XM_017003572.1:c.2466T>C	XP_016859061.1:p.His822=
XM_017003573.1:c.2466T>C	XP_016859062.1:p.His822=
XM_017003574.1:c.2466T>C	XP_016859063.1:p.His822=
NM_015040.4:c.3423T>C MANE Select	NP_055855.2:p.His1141=