Canonical Allele Identifier: CA350115670

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191032A>T (hg19) ; chr2:g.208326308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326308A>T , CM000664.2:g.208326308A>T	GRCh38
NC_000002.11:g.209191032A>T , CM000664.1:g.209191032A>T	GRCh37
NC_000002.10:g.208899277A>T	NCBI36
NG_021188.1:g.65042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3497A>T MANE Select	ENSP00000264380.4:p.Asn1166Ile
ENST00000264380.8:c.3497A>T	ENSP00000264380.4:p.Asn1166Ile
ENST00000452564.1:c.3329A>T	ENSP00000405736.1:p.Asn1110Ile
NM_015040.3:c.3497A>T	NP_055855.2:p.Asn1166Ile
XM_011510778.1:c.3533A>T	XP_011509080.1:p.Asn1178Ile
XM_011510779.1:c.3533A>T	XP_011509081.1:p.Asn1178Ile
XM_011510780.1:c.3530A>T	XP_011509082.1:p.Asn1177Ile
XM_011510781.1:c.3515A>T	XP_011509083.1:p.Asn1172Ile
XM_011510782.1:c.3533A>T	XP_011509084.1:p.Asn1178Ile
XM_011510783.1:c.3365A>T	XP_011509085.1:p.Asn1122Ile
XM_011510784.1:c.3362A>T	XP_011509086.1:p.Asn1121Ile
XM_011510785.1:c.3347A>T	XP_011509087.1:p.Asn1116Ile
XM_011510786.1:c.3242A>T	XP_011509088.1:p.Asn1081Ile
XM_011510787.1:c.3239A>T	XP_011509089.1:p.Asn1080Ile
XM_011510788.1:c.3206A>T	XP_011509090.1:p.Asn1069Ile
XM_011510789.1:c.3056A>T	XP_011509091.1:p.Asn1019Ile
XM_011510790.1:c.2540A>T	XP_011509092.1:p.Asn847Ile
XM_011510791.1:c.2540A>T	XP_011509093.1:p.Asn847Ile
XM_011510792.1:c.3533A>T	XP_011509094.1:p.Asn1178Ile
XR_922888.1:n.3670A>T
XM_011510778.3:c.3533A>T	XP_011509080.1:p.Asn1178Ile
XM_011510779.2:c.3533A>T	XP_011509081.1:p.Asn1178Ile
XM_011510780.2:c.3530A>T	XP_011509082.1:p.Asn1177Ile
XM_011510781.3:c.3515A>T	XP_011509083.1:p.Asn1172Ile
XM_011510782.3:c.3533A>T	XP_011509084.1:p.Asn1178Ile
XM_011510783.3:c.3365A>T	XP_011509085.1:p.Asn1122Ile
XM_011510784.2:c.3362A>T	XP_011509086.1:p.Asn1121Ile
XM_011510785.3:c.3347A>T	XP_011509087.1:p.Asn1116Ile
XM_011510786.3:c.3242A>T	XP_011509088.1:p.Asn1081Ile
XM_011510789.2:c.3056A>T	XP_011509091.1:p.Asn1019Ile
XM_011510792.3:c.3533A>T	XP_011509094.1:p.Asn1178Ile
XM_017003568.1:c.3479A>T	XP_016859057.1:p.Asn1160Ile
XM_017003569.1:c.3311A>T	XP_016859058.1:p.Asn1104Ile
XM_017003570.1:c.3038A>T	XP_016859059.1:p.Asn1013Ile
XM_017003571.1:c.2888A>T	XP_016859060.1:p.Asn963Ile
XM_017003572.1:c.2540A>T	XP_016859061.1:p.Asn847Ile
XM_017003573.1:c.2540A>T	XP_016859062.1:p.Asn847Ile
XM_017003574.1:c.2540A>T	XP_016859063.1:p.Asn847Ile
NM_015040.4:c.3497A>T MANE Select	NP_055855.2:p.Asn1166Ile