Canonical Allele Identifier: CA350115742

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191064T>A (hg19) ; chr2:g.208326340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326340T>A , CM000664.2:g.208326340T>A	GRCh38
NC_000002.11:g.209191064T>A , CM000664.1:g.209191064T>A	GRCh37
NC_000002.10:g.208899309T>A	NCBI36
NG_021188.1:g.65074T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3529T>A MANE Select	ENSP00000264380.4:p.Ser1177Thr
ENST00000264380.8:c.3529T>A	ENSP00000264380.4:p.Ser1177Thr
ENST00000452564.1:c.3361T>A	ENSP00000405736.1:p.Ser1121Thr
NM_015040.3:c.3529T>A	NP_055855.2:p.Ser1177Thr
XM_011510778.1:c.3565T>A	XP_011509080.1:p.Ser1189Thr
XM_011510779.1:c.3565T>A	XP_011509081.1:p.Ser1189Thr
XM_011510780.1:c.3562T>A	XP_011509082.1:p.Ser1188Thr
XM_011510781.1:c.3547T>A	XP_011509083.1:p.Ser1183Thr
XM_011510782.1:c.3565T>A	XP_011509084.1:p.Ser1189Thr
XM_011510783.1:c.3397T>A	XP_011509085.1:p.Ser1133Thr
XM_011510784.1:c.3394T>A	XP_011509086.1:p.Ser1132Thr
XM_011510785.1:c.3379T>A	XP_011509087.1:p.Ser1127Thr
XM_011510786.1:c.3274T>A	XP_011509088.1:p.Ser1092Thr
XM_011510787.1:c.3271T>A	XP_011509089.1:p.Ser1091Thr
XM_011510788.1:c.3238T>A	XP_011509090.1:p.Ser1080Thr
XM_011510789.1:c.3088T>A	XP_011509091.1:p.Ser1030Thr
XM_011510790.1:c.2572T>A	XP_011509092.1:p.Ser858Thr
XM_011510791.1:c.2572T>A	XP_011509093.1:p.Ser858Thr
XM_011510792.1:c.3565T>A	XP_011509094.1:p.Ser1189Thr
XR_922888.1:n.3702T>A
XM_011510778.3:c.3565T>A	XP_011509080.1:p.Ser1189Thr
XM_011510779.2:c.3565T>A	XP_011509081.1:p.Ser1189Thr
XM_011510780.2:c.3562T>A	XP_011509082.1:p.Ser1188Thr
XM_011510781.3:c.3547T>A	XP_011509083.1:p.Ser1183Thr
XM_011510782.3:c.3565T>A	XP_011509084.1:p.Ser1189Thr
XM_011510783.3:c.3397T>A	XP_011509085.1:p.Ser1133Thr
XM_011510784.2:c.3394T>A	XP_011509086.1:p.Ser1132Thr
XM_011510785.3:c.3379T>A	XP_011509087.1:p.Ser1127Thr
XM_011510786.3:c.3274T>A	XP_011509088.1:p.Ser1092Thr
XM_011510789.2:c.3088T>A	XP_011509091.1:p.Ser1030Thr
XM_011510792.3:c.3565T>A	XP_011509094.1:p.Ser1189Thr
XM_017003568.1:c.3511T>A	XP_016859057.1:p.Ser1171Thr
XM_017003569.1:c.3343T>A	XP_016859058.1:p.Ser1115Thr
XM_017003570.1:c.3070T>A	XP_016859059.1:p.Ser1024Thr
XM_017003571.1:c.2920T>A	XP_016859060.1:p.Ser974Thr
XM_017003572.1:c.2572T>A	XP_016859061.1:p.Ser858Thr
XM_017003573.1:c.2572T>A	XP_016859062.1:p.Ser858Thr
XM_017003574.1:c.2572T>A	XP_016859063.1:p.Ser858Thr
NM_015040.4:c.3529T>A MANE Select	NP_055855.2:p.Ser1177Thr