Canonical Allele Identifier: CA539097973

Gene: PIKFYVE

Linked Data

• ClinVar Variation Id: 896972
• ClinVar RCV Id: RCV001139965
• dbSNP Id: rs1214631493
• gnomAD v2: 2-209217374-T-C
• gnomAD v3: 2-208352650-T-C
• gnomAD v4: 2-208352650-T-C
• MyVariant Identifiers: chr2:g.209217374T>C (hg19) ; chr2:g.208352650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208352650T>C , CM000664.2:g.208352650T>C	GRCh38
NC_000002.11:g.209217374T>C , CM000664.1:g.209217374T>C	GRCh37
NC_000002.10:g.208925619T>C	NCBI36
NG_021188.1:g.91384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.5716-4T>C MANE Select	ENSP00000264380.4:n.5716-4T>C
ENST00000264380.8:c.5716-4T>C	ENSP00000264380.4:n.5716-4T>C
NM_015040.3:c.5716-4T>C	NP_055855.2:n.5716-4T>C
XM_011510778.1:c.5752-4T>C	XP_011509080.1:n.5752-4T>C
XM_011510779.1:c.5752-4T>C	XP_011509081.1:n.5752-4T>C
XM_011510780.1:c.5749-4T>C	XP_011509082.1:n.5749-4T>C
XM_011510781.1:c.5734-4T>C	XP_011509083.1:n.5734-4T>C
XM_011510782.1:c.5587-4T>C	XP_011509084.1:n.5587-4T>C
XM_011510783.1:c.5584-4T>C	XP_011509085.1:n.5584-4T>C
XM_011510784.1:c.5581-4T>C	XP_011509086.1:n.5581-4T>C
XM_011510785.1:c.5566-4T>C	XP_011509087.1:n.5566-4T>C
XM_011510786.1:c.5461-4T>C	XP_011509088.1:n.5461-4T>C
XM_011510787.1:c.5458-4T>C	XP_011509089.1:n.5458-4T>C
XM_011510788.1:c.5425-4T>C	XP_011509090.1:n.5425-4T>C
XM_011510789.1:c.5275-4T>C	XP_011509091.1:n.5275-4T>C
XM_011510790.1:c.4759-4T>C	XP_011509092.1:n.4759-4T>C
XM_011510791.1:c.4759-4T>C	XP_011509093.1:n.4759-4T>C
XR_922888.1:n.5785-4T>C
XM_011510778.3:c.5752-4T>C	XP_011509080.1:n.5752-4T>C
XM_011510779.2:c.5752-4T>C	XP_011509081.1:n.5752-4T>C
XM_011510780.2:c.5749-4T>C	XP_011509082.1:n.5749-4T>C
XM_011510781.3:c.5734-4T>C	XP_011509083.1:n.5734-4T>C
XM_011510782.3:c.5587-4T>C	XP_011509084.1:n.5587-4T>C
XM_011510783.3:c.5584-4T>C	XP_011509085.1:n.5584-4T>C
XM_011510784.2:c.5581-4T>C	XP_011509086.1:n.5581-4T>C
XM_011510785.3:c.5566-4T>C	XP_011509087.1:n.5566-4T>C
XM_011510786.3:c.5461-4T>C	XP_011509088.1:n.5461-4T>C
XM_011510789.2:c.5275-4T>C	XP_011509091.1:n.5275-4T>C
XM_017003568.1:c.5698-4T>C	XP_016859057.1:n.5698-4T>C
XM_017003569.1:c.5530-4T>C	XP_016859058.1:n.5530-4T>C
XM_017003570.1:c.5257-4T>C	XP_016859059.1:n.5257-4T>C
XM_017003571.1:c.5107-4T>C	XP_016859060.1:n.5107-4T>C
XM_017003572.1:c.4759-4T>C	XP_016859061.1:n.4759-4T>C
XM_017003573.1:c.4759-4T>C	XP_016859062.1:n.4759-4T>C
XM_017003574.1:c.4759-4T>C	XP_016859063.1:n.4759-4T>C
NM_015040.4:c.5716-4T>C MANE Select	NP_055855.2:n.5716-4T>C