Canonical Allele Identifier: CA350115573

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326262-A-T
• MyVariant Identifiers: chr2:g.209190986A>T (hg19) ; chr2:g.208326262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326262A>T , CM000664.2:g.208326262A>T	GRCh38
NC_000002.11:g.209190986A>T , CM000664.1:g.209190986A>T	GRCh37
NC_000002.10:g.208899231A>T	NCBI36
NG_021188.1:g.64996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3451A>T MANE Select	ENSP00000264380.4:p.Met1151Leu
ENST00000264380.8:c.3451A>T	ENSP00000264380.4:p.Met1151Leu
ENST00000452564.1:c.3283A>T	ENSP00000405736.1:p.Met1095Leu
NM_015040.3:c.3451A>T	NP_055855.2:p.Met1151Leu
XM_011510778.1:c.3487A>T	XP_011509080.1:p.Met1163Leu
XM_011510779.1:c.3487A>T	XP_011509081.1:p.Met1163Leu
XM_011510780.1:c.3484A>T	XP_011509082.1:p.Met1162Leu
XM_011510781.1:c.3469A>T	XP_011509083.1:p.Met1157Leu
XM_011510782.1:c.3487A>T	XP_011509084.1:p.Met1163Leu
XM_011510783.1:c.3319A>T	XP_011509085.1:p.Met1107Leu
XM_011510784.1:c.3316A>T	XP_011509086.1:p.Met1106Leu
XM_011510785.1:c.3301A>T	XP_011509087.1:p.Met1101Leu
XM_011510786.1:c.3196A>T	XP_011509088.1:p.Met1066Leu
XM_011510787.1:c.3193A>T	XP_011509089.1:p.Met1065Leu
XM_011510788.1:c.3160A>T	XP_011509090.1:p.Met1054Leu
XM_011510789.1:c.3010A>T	XP_011509091.1:p.Met1004Leu
XM_011510790.1:c.2494A>T	XP_011509092.1:p.Met832Leu
XM_011510791.1:c.2494A>T	XP_011509093.1:p.Met832Leu
XM_011510792.1:c.3487A>T	XP_011509094.1:p.Met1163Leu
XR_922888.1:n.3624A>T
XM_011510778.3:c.3487A>T	XP_011509080.1:p.Met1163Leu
XM_011510779.2:c.3487A>T	XP_011509081.1:p.Met1163Leu
XM_011510780.2:c.3484A>T	XP_011509082.1:p.Met1162Leu
XM_011510781.3:c.3469A>T	XP_011509083.1:p.Met1157Leu
XM_011510782.3:c.3487A>T	XP_011509084.1:p.Met1163Leu
XM_011510783.3:c.3319A>T	XP_011509085.1:p.Met1107Leu
XM_011510784.2:c.3316A>T	XP_011509086.1:p.Met1106Leu
XM_011510785.3:c.3301A>T	XP_011509087.1:p.Met1101Leu
XM_011510786.3:c.3196A>T	XP_011509088.1:p.Met1066Leu
XM_011510789.2:c.3010A>T	XP_011509091.1:p.Met1004Leu
XM_011510792.3:c.3487A>T	XP_011509094.1:p.Met1163Leu
XM_017003568.1:c.3433A>T	XP_016859057.1:p.Met1145Leu
XM_017003569.1:c.3265A>T	XP_016859058.1:p.Met1089Leu
XM_017003570.1:c.2992A>T	XP_016859059.1:p.Met998Leu
XM_017003571.1:c.2842A>T	XP_016859060.1:p.Met948Leu
XM_017003572.1:c.2494A>T	XP_016859061.1:p.Met832Leu
XM_017003573.1:c.2494A>T	XP_016859062.1:p.Met832Leu
XM_017003574.1:c.2494A>T	XP_016859063.1:p.Met832Leu
NM_015040.4:c.3451A>T MANE Select	NP_055855.2:p.Met1151Leu