Canonical Allele Identifier: CA350115871

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191122T>C (hg19) ; chr2:g.208326398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326398T>C , CM000664.2:g.208326398T>C	GRCh38
NC_000002.11:g.209191122T>C , CM000664.1:g.209191122T>C	GRCh37
NC_000002.10:g.208899367T>C	NCBI36
NG_021188.1:g.65132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3587T>C MANE Select	ENSP00000264380.4:p.Leu1196Pro
ENST00000264380.8:c.3587T>C	ENSP00000264380.4:p.Leu1196Pro
ENST00000452564.1:c.3419T>C	ENSP00000405736.1:p.Leu1140Pro
NM_015040.3:c.3587T>C	NP_055855.2:p.Leu1196Pro
XM_011510778.1:c.3623T>C	XP_011509080.1:p.Leu1208Pro
XM_011510779.1:c.3623T>C	XP_011509081.1:p.Leu1208Pro
XM_011510780.1:c.3620T>C	XP_011509082.1:p.Leu1207Pro
XM_011510781.1:c.3605T>C	XP_011509083.1:p.Leu1202Pro
XM_011510782.1:c.3623T>C	XP_011509084.1:p.Leu1208Pro
XM_011510783.1:c.3455T>C	XP_011509085.1:p.Leu1152Pro
XM_011510784.1:c.3452T>C	XP_011509086.1:p.Leu1151Pro
XM_011510785.1:c.3437T>C	XP_011509087.1:p.Leu1146Pro
XM_011510786.1:c.3332T>C	XP_011509088.1:p.Leu1111Pro
XM_011510787.1:c.3329T>C	XP_011509089.1:p.Leu1110Pro
XM_011510788.1:c.3296T>C	XP_011509090.1:p.Leu1099Pro
XM_011510789.1:c.3146T>C	XP_011509091.1:p.Leu1049Pro
XM_011510790.1:c.2630T>C	XP_011509092.1:p.Leu877Pro
XM_011510791.1:c.2630T>C	XP_011509093.1:p.Leu877Pro
XM_011510792.1:c.3623T>C	XP_011509094.1:p.Leu1208Pro
XR_922888.1:n.3760T>C
XM_011510778.3:c.3623T>C	XP_011509080.1:p.Leu1208Pro
XM_011510779.2:c.3623T>C	XP_011509081.1:p.Leu1208Pro
XM_011510780.2:c.3620T>C	XP_011509082.1:p.Leu1207Pro
XM_011510781.3:c.3605T>C	XP_011509083.1:p.Leu1202Pro
XM_011510782.3:c.3623T>C	XP_011509084.1:p.Leu1208Pro
XM_011510783.3:c.3455T>C	XP_011509085.1:p.Leu1152Pro
XM_011510784.2:c.3452T>C	XP_011509086.1:p.Leu1151Pro
XM_011510785.3:c.3437T>C	XP_011509087.1:p.Leu1146Pro
XM_011510786.3:c.3332T>C	XP_011509088.1:p.Leu1111Pro
XM_011510789.2:c.3146T>C	XP_011509091.1:p.Leu1049Pro
XM_011510792.3:c.3623T>C	XP_011509094.1:p.Leu1208Pro
XM_017003568.1:c.3569T>C	XP_016859057.1:p.Leu1190Pro
XM_017003569.1:c.3401T>C	XP_016859058.1:p.Leu1134Pro
XM_017003570.1:c.3128T>C	XP_016859059.1:p.Leu1043Pro
XM_017003571.1:c.2978T>C	XP_016859060.1:p.Leu993Pro
XM_017003572.1:c.2630T>C	XP_016859061.1:p.Leu877Pro
XM_017003573.1:c.2630T>C	XP_016859062.1:p.Leu877Pro
XM_017003574.1:c.2630T>C	XP_016859063.1:p.Leu877Pro
NM_015040.4:c.3587T>C MANE Select	NP_055855.2:p.Leu1196Pro