Canonical Allele Identifier: CA350115522

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190965G>C (hg19) ; chr2:g.208326241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326241G>C , CM000664.2:g.208326241G>C	GRCh38
NC_000002.11:g.209190965G>C , CM000664.1:g.209190965G>C	GRCh37
NC_000002.10:g.208899210G>C	NCBI36
NG_021188.1:g.64975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3430G>C MANE Select	ENSP00000264380.4:p.Asp1144His
ENST00000264380.8:c.3430G>C	ENSP00000264380.4:p.Asp1144His
ENST00000452564.1:c.3262G>C	ENSP00000405736.1:p.Asp1088His
NM_015040.3:c.3430G>C	NP_055855.2:p.Asp1144His
XM_011510778.1:c.3466G>C	XP_011509080.1:p.Asp1156His
XM_011510779.1:c.3466G>C	XP_011509081.1:p.Asp1156His
XM_011510780.1:c.3463G>C	XP_011509082.1:p.Asp1155His
XM_011510781.1:c.3448G>C	XP_011509083.1:p.Asp1150His
XM_011510782.1:c.3466G>C	XP_011509084.1:p.Asp1156His
XM_011510783.1:c.3298G>C	XP_011509085.1:p.Asp1100His
XM_011510784.1:c.3295G>C	XP_011509086.1:p.Asp1099His
XM_011510785.1:c.3280G>C	XP_011509087.1:p.Asp1094His
XM_011510786.1:c.3175G>C	XP_011509088.1:p.Asp1059His
XM_011510787.1:c.3172G>C	XP_011509089.1:p.Asp1058His
XM_011510788.1:c.3139G>C	XP_011509090.1:p.Asp1047His
XM_011510789.1:c.2989G>C	XP_011509091.1:p.Asp997His
XM_011510790.1:c.2473G>C	XP_011509092.1:p.Asp825His
XM_011510791.1:c.2473G>C	XP_011509093.1:p.Asp825His
XM_011510792.1:c.3466G>C	XP_011509094.1:p.Asp1156His
XR_922888.1:n.3603G>C
XM_011510778.3:c.3466G>C	XP_011509080.1:p.Asp1156His
XM_011510779.2:c.3466G>C	XP_011509081.1:p.Asp1156His
XM_011510780.2:c.3463G>C	XP_011509082.1:p.Asp1155His
XM_011510781.3:c.3448G>C	XP_011509083.1:p.Asp1150His
XM_011510782.3:c.3466G>C	XP_011509084.1:p.Asp1156His
XM_011510783.3:c.3298G>C	XP_011509085.1:p.Asp1100His
XM_011510784.2:c.3295G>C	XP_011509086.1:p.Asp1099His
XM_011510785.3:c.3280G>C	XP_011509087.1:p.Asp1094His
XM_011510786.3:c.3175G>C	XP_011509088.1:p.Asp1059His
XM_011510789.2:c.2989G>C	XP_011509091.1:p.Asp997His
XM_011510792.3:c.3466G>C	XP_011509094.1:p.Asp1156His
XM_017003568.1:c.3412G>C	XP_016859057.1:p.Asp1138His
XM_017003569.1:c.3244G>C	XP_016859058.1:p.Asp1082His
XM_017003570.1:c.2971G>C	XP_016859059.1:p.Asp991His
XM_017003571.1:c.2821G>C	XP_016859060.1:p.Asp941His
XM_017003572.1:c.2473G>C	XP_016859061.1:p.Asp825His
XM_017003573.1:c.2473G>C	XP_016859062.1:p.Asp825His
XM_017003574.1:c.2473G>C	XP_016859063.1:p.Asp825His
NM_015040.4:c.3430G>C MANE Select	NP_055855.2:p.Asp1144His