Canonical Allele Identifier: CA431117053

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191021T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326297T>A , CM000664.2:g.208326297T>A	GRCh38
NC_000002.11:g.209191021T>A , CM000664.1:g.209191021T>A	GRCh37
NC_000002.10:g.208899266T>A	NCBI36
NG_021188.1:g.65031T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3486T>A MANE Select	ENSP00000264380.4:p.Ile1162=
ENST00000264380.8:c.3486T>A	ENSP00000264380.4:p.Ile1162=
ENST00000452564.1:c.3318T>A	ENSP00000405736.1:p.Ile1106=
NM_015040.3:c.3486T>A	NP_055855.2:p.Ile1162=
XM_011510778.1:c.3522T>A	XP_011509080.1:p.Ile1174=
XM_011510779.1:c.3522T>A	XP_011509081.1:p.Ile1174=
XM_011510780.1:c.3519T>A	XP_011509082.1:p.Ile1173=
XM_011510781.1:c.3504T>A	XP_011509083.1:p.Ile1168=
XM_011510782.1:c.3522T>A	XP_011509084.1:p.Ile1174=
XM_011510783.1:c.3354T>A	XP_011509085.1:p.Ile1118=
XM_011510784.1:c.3351T>A	XP_011509086.1:p.Ile1117=
XM_011510785.1:c.3336T>A	XP_011509087.1:p.Ile1112=
XM_011510786.1:c.3231T>A	XP_011509088.1:p.Ile1077=
XM_011510787.1:c.3228T>A	XP_011509089.1:p.Ile1076=
XM_011510788.1:c.3195T>A	XP_011509090.1:p.Ile1065=
XM_011510789.1:c.3045T>A	XP_011509091.1:p.Ile1015=
XM_011510790.1:c.2529T>A	XP_011509092.1:p.Ile843=
XM_011510791.1:c.2529T>A	XP_011509093.1:p.Ile843=
XM_011510792.1:c.3522T>A	XP_011509094.1:p.Ile1174=
XR_922888.1:n.3659T>A
XM_011510778.3:c.3522T>A	XP_011509080.1:p.Ile1174=
XM_011510779.2:c.3522T>A	XP_011509081.1:p.Ile1174=
XM_011510780.2:c.3519T>A	XP_011509082.1:p.Ile1173=
XM_011510781.3:c.3504T>A	XP_011509083.1:p.Ile1168=
XM_011510782.3:c.3522T>A	XP_011509084.1:p.Ile1174=
XM_011510783.3:c.3354T>A	XP_011509085.1:p.Ile1118=
XM_011510784.2:c.3351T>A	XP_011509086.1:p.Ile1117=
XM_011510785.3:c.3336T>A	XP_011509087.1:p.Ile1112=
XM_011510786.3:c.3231T>A	XP_011509088.1:p.Ile1077=
XM_011510789.2:c.3045T>A	XP_011509091.1:p.Ile1015=
XM_011510792.3:c.3522T>A	XP_011509094.1:p.Ile1174=
XM_017003568.1:c.3468T>A	XP_016859057.1:p.Ile1156=
XM_017003569.1:c.3300T>A	XP_016859058.1:p.Ile1100=
XM_017003570.1:c.3027T>A	XP_016859059.1:p.Ile1009=
XM_017003571.1:c.2877T>A	XP_016859060.1:p.Ile959=
XM_017003572.1:c.2529T>A	XP_016859061.1:p.Ile843=
XM_017003573.1:c.2529T>A	XP_016859062.1:p.Ile843=
XM_017003574.1:c.2529T>A	XP_016859063.1:p.Ile843=
NM_015040.4:c.3486T>A MANE Select	NP_055855.2:p.Ile1162=