Canonical Allele Identifier: CA350115645

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191021T>G (hg19) ; chr2:g.208326297T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3486T>G MANE Select	ENSP00000264380.4:p.Ile1162Met
ENST00000264380.8:c.3486T>G	ENSP00000264380.4:p.Ile1162Met
ENST00000452564.1:c.3318T>G	ENSP00000405736.1:p.Ile1106Met
NM_015040.3:c.3486T>G	NP_055855.2:p.Ile1162Met
XM_011510778.1:c.3522T>G	XP_011509080.1:p.Ile1174Met
XM_011510779.1:c.3522T>G	XP_011509081.1:p.Ile1174Met
XM_011510780.1:c.3519T>G	XP_011509082.1:p.Ile1173Met
XM_011510781.1:c.3504T>G	XP_011509083.1:p.Ile1168Met
XM_011510782.1:c.3522T>G	XP_011509084.1:p.Ile1174Met
XM_011510783.1:c.3354T>G	XP_011509085.1:p.Ile1118Met
XM_011510784.1:c.3351T>G	XP_011509086.1:p.Ile1117Met
XM_011510785.1:c.3336T>G	XP_011509087.1:p.Ile1112Met
XM_011510786.1:c.3231T>G	XP_011509088.1:p.Ile1077Met
XM_011510787.1:c.3228T>G	XP_011509089.1:p.Ile1076Met
XM_011510788.1:c.3195T>G	XP_011509090.1:p.Ile1065Met
XM_011510789.1:c.3045T>G	XP_011509091.1:p.Ile1015Met
XM_011510790.1:c.2529T>G	XP_011509092.1:p.Ile843Met
XM_011510791.1:c.2529T>G	XP_011509093.1:p.Ile843Met
XM_011510792.1:c.3522T>G	XP_011509094.1:p.Ile1174Met
XR_922888.1:n.3659T>G
XM_011510778.3:c.3522T>G	XP_011509080.1:p.Ile1174Met
XM_011510779.2:c.3522T>G	XP_011509081.1:p.Ile1174Met
XM_011510780.2:c.3519T>G	XP_011509082.1:p.Ile1173Met
XM_011510781.3:c.3504T>G	XP_011509083.1:p.Ile1168Met
XM_011510782.3:c.3522T>G	XP_011509084.1:p.Ile1174Met
XM_011510783.3:c.3354T>G	XP_011509085.1:p.Ile1118Met
XM_011510784.2:c.3351T>G	XP_011509086.1:p.Ile1117Met
XM_011510785.3:c.3336T>G	XP_011509087.1:p.Ile1112Met
XM_011510786.3:c.3231T>G	XP_011509088.1:p.Ile1077Met
XM_011510789.2:c.3045T>G	XP_011509091.1:p.Ile1015Met
XM_011510792.3:c.3522T>G	XP_011509094.1:p.Ile1174Met
XM_017003568.1:c.3468T>G	XP_016859057.1:p.Ile1156Met
XM_017003569.1:c.3300T>G	XP_016859058.1:p.Ile1100Met
XM_017003570.1:c.3027T>G	XP_016859059.1:p.Ile1009Met
XM_017003571.1:c.2877T>G	XP_016859060.1:p.Ile959Met
XM_017003572.1:c.2529T>G	XP_016859061.1:p.Ile843Met
XM_017003573.1:c.2529T>G	XP_016859062.1:p.Ile843Met
XM_017003574.1:c.2529T>G	XP_016859063.1:p.Ile843Met
NM_015040.4:c.3486T>G MANE Select	NP_055855.2:p.Ile1162Met