Canonical Allele Identifier: CA2080158

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208330535G>C , CM000664.2:g.208330535G>C	GRCh38
NC_000002.11:g.209195259G>C , CM000664.1:g.209195259G>C	GRCh37
NC_000002.10:g.208903504G>C	NCBI36
NG_021188.1:g.69269G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015040.4:c.3804G>C MANE Select	NP_055855.2:p.Gln1268His
ENST00000264380.9:c.3804G>C MANE Select	ENSP00000264380.4:p.Gln1268His
NM_015040.3:c.3804G>C	NP_055855.2:p.Gln1268His
ENST00000264380.8:c.3804G>C	ENSP00000264380.4:p.Gln1268His
ENST00000452564.1:c.3636G>C	ENSP00000405736.1:p.Gln1212His
XM_011510778.1:c.3840G>C	XP_011509080.1:p.Gln1280His
XM_011510778.3:c.3840G>C	XP_011509080.1:p.Gln1280His
XM_011510779.1:c.3840G>C	XP_011509081.1:p.Gln1280His
XM_011510779.2:c.3840G>C	XP_011509081.1:p.Gln1280His
XM_011510780.1:c.3837G>C	XP_011509082.1:p.Gln1279His
XM_011510780.2:c.3837G>C	XP_011509082.1:p.Gln1279His
XM_011510781.1:c.3822G>C	XP_011509083.1:p.Gln1274His
XM_011510781.3:c.3822G>C	XP_011509083.1:p.Gln1274His
XM_011510782.1:c.3840G>C	XP_011509084.1:p.Gln1280His
XM_011510782.3:c.3840G>C	XP_011509084.1:p.Gln1280His
XM_011510783.1:c.3672G>C	XP_011509085.1:p.Gln1224His
XM_011510783.3:c.3672G>C	XP_011509085.1:p.Gln1224His
XM_011510784.1:c.3669G>C	XP_011509086.1:p.Gln1223His
XM_011510784.2:c.3669G>C	XP_011509086.1:p.Gln1223His
XM_011510785.1:c.3654G>C	XP_011509087.1:p.Gln1218His
XM_011510785.3:c.3654G>C	XP_011509087.1:p.Gln1218His
XM_011510786.1:c.3549G>C	XP_011509088.1:p.Gln1183His
XM_011510786.3:c.3549G>C	XP_011509088.1:p.Gln1183His
XM_011510787.1:c.3546G>C	XP_011509089.1:p.Gln1182His
XM_011510788.1:c.3513G>C	XP_011509090.1:p.Gln1171His
XM_011510789.1:c.3363G>C	XP_011509091.1:p.Gln1121His
XM_011510789.2:c.3363G>C	XP_011509091.1:p.Gln1121His
XM_011510790.1:c.2847G>C	XP_011509092.1:p.Gln949His
XM_011510791.1:c.2847G>C	XP_011509093.1:p.Gln949His
XM_011510792.1:c.3840G>C	XP_011509094.1:p.Gln1280His
XM_011510792.3:c.3840G>C	XP_011509094.1:p.Gln1280His
XM_017003568.1:c.3786G>C	XP_016859057.1:p.Gln1262His
XM_017003569.1:c.3618G>C	XP_016859058.1:p.Gln1206His
XM_017003570.1:c.3345G>C	XP_016859059.1:p.Gln1115His
XM_017003571.1:c.3195G>C	XP_016859060.1:p.Gln1065His
XM_017003572.1:c.2847G>C	XP_016859061.1:p.Gln949His
XM_017003573.1:c.2847G>C	XP_016859062.1:p.Gln949His
XM_017003574.1:c.2847G>C	XP_016859063.1:p.Gln949His
XR_922888.1:n.3977G>C