Canonical Allele Identifier: CA350115649

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326299-A-C
• MyVariant Identifiers: chr2:g.209191023A>C (hg19) ; chr2:g.208326299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326299A>C , CM000664.2:g.208326299A>C	GRCh38
NC_000002.11:g.209191023A>C , CM000664.1:g.209191023A>C	GRCh37
NC_000002.10:g.208899268A>C	NCBI36
NG_021188.1:g.65033A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3488A>C MANE Select	ENSP00000264380.4:p.Gln1163Pro
ENST00000264380.8:c.3488A>C	ENSP00000264380.4:p.Gln1163Pro
ENST00000452564.1:c.3320A>C	ENSP00000405736.1:p.Gln1107Pro
NM_015040.3:c.3488A>C	NP_055855.2:p.Gln1163Pro
XM_011510778.1:c.3524A>C	XP_011509080.1:p.Gln1175Pro
XM_011510779.1:c.3524A>C	XP_011509081.1:p.Gln1175Pro
XM_011510780.1:c.3521A>C	XP_011509082.1:p.Gln1174Pro
XM_011510781.1:c.3506A>C	XP_011509083.1:p.Gln1169Pro
XM_011510782.1:c.3524A>C	XP_011509084.1:p.Gln1175Pro
XM_011510783.1:c.3356A>C	XP_011509085.1:p.Gln1119Pro
XM_011510784.1:c.3353A>C	XP_011509086.1:p.Gln1118Pro
XM_011510785.1:c.3338A>C	XP_011509087.1:p.Gln1113Pro
XM_011510786.1:c.3233A>C	XP_011509088.1:p.Gln1078Pro
XM_011510787.1:c.3230A>C	XP_011509089.1:p.Gln1077Pro
XM_011510788.1:c.3197A>C	XP_011509090.1:p.Gln1066Pro
XM_011510789.1:c.3047A>C	XP_011509091.1:p.Gln1016Pro
XM_011510790.1:c.2531A>C	XP_011509092.1:p.Gln844Pro
XM_011510791.1:c.2531A>C	XP_011509093.1:p.Gln844Pro
XM_011510792.1:c.3524A>C	XP_011509094.1:p.Gln1175Pro
XR_922888.1:n.3661A>C
XM_011510778.3:c.3524A>C	XP_011509080.1:p.Gln1175Pro
XM_011510779.2:c.3524A>C	XP_011509081.1:p.Gln1175Pro
XM_011510780.2:c.3521A>C	XP_011509082.1:p.Gln1174Pro
XM_011510781.3:c.3506A>C	XP_011509083.1:p.Gln1169Pro
XM_011510782.3:c.3524A>C	XP_011509084.1:p.Gln1175Pro
XM_011510783.3:c.3356A>C	XP_011509085.1:p.Gln1119Pro
XM_011510784.2:c.3353A>C	XP_011509086.1:p.Gln1118Pro
XM_011510785.3:c.3338A>C	XP_011509087.1:p.Gln1113Pro
XM_011510786.3:c.3233A>C	XP_011509088.1:p.Gln1078Pro
XM_011510789.2:c.3047A>C	XP_011509091.1:p.Gln1016Pro
XM_011510792.3:c.3524A>C	XP_011509094.1:p.Gln1175Pro
XM_017003568.1:c.3470A>C	XP_016859057.1:p.Gln1157Pro
XM_017003569.1:c.3302A>C	XP_016859058.1:p.Gln1101Pro
XM_017003570.1:c.3029A>C	XP_016859059.1:p.Gln1010Pro
XM_017003571.1:c.2879A>C	XP_016859060.1:p.Gln960Pro
XM_017003572.1:c.2531A>C	XP_016859061.1:p.Gln844Pro
XM_017003573.1:c.2531A>C	XP_016859062.1:p.Gln844Pro
XM_017003574.1:c.2531A>C	XP_016859063.1:p.Gln844Pro
NM_015040.4:c.3488A>C MANE Select	NP_055855.2:p.Gln1163Pro