Canonical Allele Identifier: CA350115575

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190987T>C (hg19) ; chr2:g.208326263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326263T>C , CM000664.2:g.208326263T>C	GRCh38
NC_000002.11:g.209190987T>C , CM000664.1:g.209190987T>C	GRCh37
NC_000002.10:g.208899232T>C	NCBI36
NG_021188.1:g.64997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3452T>C MANE Select	ENSP00000264380.4:p.Met1151Thr
ENST00000264380.8:c.3452T>C	ENSP00000264380.4:p.Met1151Thr
ENST00000452564.1:c.3284T>C	ENSP00000405736.1:p.Met1095Thr
NM_015040.3:c.3452T>C	NP_055855.2:p.Met1151Thr
XM_011510778.1:c.3488T>C	XP_011509080.1:p.Met1163Thr
XM_011510779.1:c.3488T>C	XP_011509081.1:p.Met1163Thr
XM_011510780.1:c.3485T>C	XP_011509082.1:p.Met1162Thr
XM_011510781.1:c.3470T>C	XP_011509083.1:p.Met1157Thr
XM_011510782.1:c.3488T>C	XP_011509084.1:p.Met1163Thr
XM_011510783.1:c.3320T>C	XP_011509085.1:p.Met1107Thr
XM_011510784.1:c.3317T>C	XP_011509086.1:p.Met1106Thr
XM_011510785.1:c.3302T>C	XP_011509087.1:p.Met1101Thr
XM_011510786.1:c.3197T>C	XP_011509088.1:p.Met1066Thr
XM_011510787.1:c.3194T>C	XP_011509089.1:p.Met1065Thr
XM_011510788.1:c.3161T>C	XP_011509090.1:p.Met1054Thr
XM_011510789.1:c.3011T>C	XP_011509091.1:p.Met1004Thr
XM_011510790.1:c.2495T>C	XP_011509092.1:p.Met832Thr
XM_011510791.1:c.2495T>C	XP_011509093.1:p.Met832Thr
XM_011510792.1:c.3488T>C	XP_011509094.1:p.Met1163Thr
XR_922888.1:n.3625T>C
XM_011510778.3:c.3488T>C	XP_011509080.1:p.Met1163Thr
XM_011510779.2:c.3488T>C	XP_011509081.1:p.Met1163Thr
XM_011510780.2:c.3485T>C	XP_011509082.1:p.Met1162Thr
XM_011510781.3:c.3470T>C	XP_011509083.1:p.Met1157Thr
XM_011510782.3:c.3488T>C	XP_011509084.1:p.Met1163Thr
XM_011510783.3:c.3320T>C	XP_011509085.1:p.Met1107Thr
XM_011510784.2:c.3317T>C	XP_011509086.1:p.Met1106Thr
XM_011510785.3:c.3302T>C	XP_011509087.1:p.Met1101Thr
XM_011510786.3:c.3197T>C	XP_011509088.1:p.Met1066Thr
XM_011510789.2:c.3011T>C	XP_011509091.1:p.Met1004Thr
XM_011510792.3:c.3488T>C	XP_011509094.1:p.Met1163Thr
XM_017003568.1:c.3434T>C	XP_016859057.1:p.Met1145Thr
XM_017003569.1:c.3266T>C	XP_016859058.1:p.Met1089Thr
XM_017003570.1:c.2993T>C	XP_016859059.1:p.Met998Thr
XM_017003571.1:c.2843T>C	XP_016859060.1:p.Met948Thr
XM_017003572.1:c.2495T>C	XP_016859061.1:p.Met832Thr
XM_017003573.1:c.2495T>C	XP_016859062.1:p.Met832Thr
XM_017003574.1:c.2495T>C	XP_016859063.1:p.Met832Thr
NM_015040.4:c.3452T>C MANE Select	NP_055855.2:p.Met1151Thr