Canonical Allele Identifier: CA431117770

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1476891761
• gnomAD v2: 2-209190977-T-C
• gnomAD v3: 2-208326253-T-C
• gnomAD v4: 2-208326253-T-C
• MyVariant Identifiers: chr2:g.209190977T>C (hg19) ; chr2:g.208326253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326253T>C , CM000664.2:g.208326253T>C	GRCh38
NC_000002.11:g.209190977T>C , CM000664.1:g.209190977T>C	GRCh37
NC_000002.10:g.208899222T>C	NCBI36
NG_021188.1:g.64987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3442T>C MANE Select	ENSP00000264380.4:p.Leu1148=
ENST00000264380.8:c.3442T>C	ENSP00000264380.4:p.Leu1148=
ENST00000452564.1:c.3274T>C	ENSP00000405736.1:p.Leu1092=
NM_015040.3:c.3442T>C	NP_055855.2:p.Leu1148=
XM_011510778.1:c.3478T>C	XP_011509080.1:p.Leu1160=
XM_011510779.1:c.3478T>C	XP_011509081.1:p.Leu1160=
XM_011510780.1:c.3475T>C	XP_011509082.1:p.Leu1159=
XM_011510781.1:c.3460T>C	XP_011509083.1:p.Leu1154=
XM_011510782.1:c.3478T>C	XP_011509084.1:p.Leu1160=
XM_011510783.1:c.3310T>C	XP_011509085.1:p.Leu1104=
XM_011510784.1:c.3307T>C	XP_011509086.1:p.Leu1103=
XM_011510785.1:c.3292T>C	XP_011509087.1:p.Leu1098=
XM_011510786.1:c.3187T>C	XP_011509088.1:p.Leu1063=
XM_011510787.1:c.3184T>C	XP_011509089.1:p.Leu1062=
XM_011510788.1:c.3151T>C	XP_011509090.1:p.Leu1051=
XM_011510789.1:c.3001T>C	XP_011509091.1:p.Leu1001=
XM_011510790.1:c.2485T>C	XP_011509092.1:p.Leu829=
XM_011510791.1:c.2485T>C	XP_011509093.1:p.Leu829=
XM_011510792.1:c.3478T>C	XP_011509094.1:p.Leu1160=
XR_922888.1:n.3615T>C
XM_011510778.3:c.3478T>C	XP_011509080.1:p.Leu1160=
XM_011510779.2:c.3478T>C	XP_011509081.1:p.Leu1160=
XM_011510780.2:c.3475T>C	XP_011509082.1:p.Leu1159=
XM_011510781.3:c.3460T>C	XP_011509083.1:p.Leu1154=
XM_011510782.3:c.3478T>C	XP_011509084.1:p.Leu1160=
XM_011510783.3:c.3310T>C	XP_011509085.1:p.Leu1104=
XM_011510784.2:c.3307T>C	XP_011509086.1:p.Leu1103=
XM_011510785.3:c.3292T>C	XP_011509087.1:p.Leu1098=
XM_011510786.3:c.3187T>C	XP_011509088.1:p.Leu1063=
XM_011510789.2:c.3001T>C	XP_011509091.1:p.Leu1001=
XM_011510792.3:c.3478T>C	XP_011509094.1:p.Leu1160=
XM_017003568.1:c.3424T>C	XP_016859057.1:p.Leu1142=
XM_017003569.1:c.3256T>C	XP_016859058.1:p.Leu1086=
XM_017003570.1:c.2983T>C	XP_016859059.1:p.Leu995=
XM_017003571.1:c.2833T>C	XP_016859060.1:p.Leu945=
XM_017003572.1:c.2485T>C	XP_016859061.1:p.Leu829=
XM_017003573.1:c.2485T>C	XP_016859062.1:p.Leu829=
XM_017003574.1:c.2485T>C	XP_016859063.1:p.Leu829=
NM_015040.4:c.3442T>C MANE Select	NP_055855.2:p.Leu1148=