Canonical Allele Identifier: CA350115666

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326307-A-T
• MyVariant Identifiers: chr2:g.209191031A>T (hg19) ; chr2:g.208326307A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326307A>T , CM000664.2:g.208326307A>T	GRCh38
NC_000002.11:g.209191031A>T , CM000664.1:g.209191031A>T	GRCh37
NC_000002.10:g.208899276A>T	NCBI36
NG_021188.1:g.65041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3496A>T MANE Select	ENSP00000264380.4:p.Asn1166Tyr
ENST00000264380.8:c.3496A>T	ENSP00000264380.4:p.Asn1166Tyr
ENST00000452564.1:c.3328A>T	ENSP00000405736.1:p.Asn1110Tyr
NM_015040.3:c.3496A>T	NP_055855.2:p.Asn1166Tyr
XM_011510778.1:c.3532A>T	XP_011509080.1:p.Asn1178Tyr
XM_011510779.1:c.3532A>T	XP_011509081.1:p.Asn1178Tyr
XM_011510780.1:c.3529A>T	XP_011509082.1:p.Asn1177Tyr
XM_011510781.1:c.3514A>T	XP_011509083.1:p.Asn1172Tyr
XM_011510782.1:c.3532A>T	XP_011509084.1:p.Asn1178Tyr
XM_011510783.1:c.3364A>T	XP_011509085.1:p.Asn1122Tyr
XM_011510784.1:c.3361A>T	XP_011509086.1:p.Asn1121Tyr
XM_011510785.1:c.3346A>T	XP_011509087.1:p.Asn1116Tyr
XM_011510786.1:c.3241A>T	XP_011509088.1:p.Asn1081Tyr
XM_011510787.1:c.3238A>T	XP_011509089.1:p.Asn1080Tyr
XM_011510788.1:c.3205A>T	XP_011509090.1:p.Asn1069Tyr
XM_011510789.1:c.3055A>T	XP_011509091.1:p.Asn1019Tyr
XM_011510790.1:c.2539A>T	XP_011509092.1:p.Asn847Tyr
XM_011510791.1:c.2539A>T	XP_011509093.1:p.Asn847Tyr
XM_011510792.1:c.3532A>T	XP_011509094.1:p.Asn1178Tyr
XR_922888.1:n.3669A>T
XM_011510778.3:c.3532A>T	XP_011509080.1:p.Asn1178Tyr
XM_011510779.2:c.3532A>T	XP_011509081.1:p.Asn1178Tyr
XM_011510780.2:c.3529A>T	XP_011509082.1:p.Asn1177Tyr
XM_011510781.3:c.3514A>T	XP_011509083.1:p.Asn1172Tyr
XM_011510782.3:c.3532A>T	XP_011509084.1:p.Asn1178Tyr
XM_011510783.3:c.3364A>T	XP_011509085.1:p.Asn1122Tyr
XM_011510784.2:c.3361A>T	XP_011509086.1:p.Asn1121Tyr
XM_011510785.3:c.3346A>T	XP_011509087.1:p.Asn1116Tyr
XM_011510786.3:c.3241A>T	XP_011509088.1:p.Asn1081Tyr
XM_011510789.2:c.3055A>T	XP_011509091.1:p.Asn1019Tyr
XM_011510792.3:c.3532A>T	XP_011509094.1:p.Asn1178Tyr
XM_017003568.1:c.3478A>T	XP_016859057.1:p.Asn1160Tyr
XM_017003569.1:c.3310A>T	XP_016859058.1:p.Asn1104Tyr
XM_017003570.1:c.3037A>T	XP_016859059.1:p.Asn1013Tyr
XM_017003571.1:c.2887A>T	XP_016859060.1:p.Asn963Tyr
XM_017003572.1:c.2539A>T	XP_016859061.1:p.Asn847Tyr
XM_017003573.1:c.2539A>T	XP_016859062.1:p.Asn847Tyr
XM_017003574.1:c.2539A>T	XP_016859063.1:p.Asn847Tyr
NM_015040.4:c.3496A>T MANE Select	NP_055855.2:p.Asn1166Tyr