Canonical Allele Identifier: CA350115667

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191031A>G (hg19) ; chr2:g.208326307A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3496A>G MANE Select	ENSP00000264380.4:p.Asn1166Asp
ENST00000264380.8:c.3496A>G	ENSP00000264380.4:p.Asn1166Asp
ENST00000452564.1:c.3328A>G	ENSP00000405736.1:p.Asn1110Asp
NM_015040.3:c.3496A>G	NP_055855.2:p.Asn1166Asp
XM_011510778.1:c.3532A>G	XP_011509080.1:p.Asn1178Asp
XM_011510779.1:c.3532A>G	XP_011509081.1:p.Asn1178Asp
XM_011510780.1:c.3529A>G	XP_011509082.1:p.Asn1177Asp
XM_011510781.1:c.3514A>G	XP_011509083.1:p.Asn1172Asp
XM_011510782.1:c.3532A>G	XP_011509084.1:p.Asn1178Asp
XM_011510783.1:c.3364A>G	XP_011509085.1:p.Asn1122Asp
XM_011510784.1:c.3361A>G	XP_011509086.1:p.Asn1121Asp
XM_011510785.1:c.3346A>G	XP_011509087.1:p.Asn1116Asp
XM_011510786.1:c.3241A>G	XP_011509088.1:p.Asn1081Asp
XM_011510787.1:c.3238A>G	XP_011509089.1:p.Asn1080Asp
XM_011510788.1:c.3205A>G	XP_011509090.1:p.Asn1069Asp
XM_011510789.1:c.3055A>G	XP_011509091.1:p.Asn1019Asp
XM_011510790.1:c.2539A>G	XP_011509092.1:p.Asn847Asp
XM_011510791.1:c.2539A>G	XP_011509093.1:p.Asn847Asp
XM_011510792.1:c.3532A>G	XP_011509094.1:p.Asn1178Asp
XR_922888.1:n.3669A>G
XM_011510778.3:c.3532A>G	XP_011509080.1:p.Asn1178Asp
XM_011510779.2:c.3532A>G	XP_011509081.1:p.Asn1178Asp
XM_011510780.2:c.3529A>G	XP_011509082.1:p.Asn1177Asp
XM_011510781.3:c.3514A>G	XP_011509083.1:p.Asn1172Asp
XM_011510782.3:c.3532A>G	XP_011509084.1:p.Asn1178Asp
XM_011510783.3:c.3364A>G	XP_011509085.1:p.Asn1122Asp
XM_011510784.2:c.3361A>G	XP_011509086.1:p.Asn1121Asp
XM_011510785.3:c.3346A>G	XP_011509087.1:p.Asn1116Asp
XM_011510786.3:c.3241A>G	XP_011509088.1:p.Asn1081Asp
XM_011510789.2:c.3055A>G	XP_011509091.1:p.Asn1019Asp
XM_011510792.3:c.3532A>G	XP_011509094.1:p.Asn1178Asp
XM_017003568.1:c.3478A>G	XP_016859057.1:p.Asn1160Asp
XM_017003569.1:c.3310A>G	XP_016859058.1:p.Asn1104Asp
XM_017003570.1:c.3037A>G	XP_016859059.1:p.Asn1013Asp
XM_017003571.1:c.2887A>G	XP_016859060.1:p.Asn963Asp
XM_017003572.1:c.2539A>G	XP_016859061.1:p.Asn847Asp
XM_017003573.1:c.2539A>G	XP_016859062.1:p.Asn847Asp
XM_017003574.1:c.2539A>G	XP_016859063.1:p.Asn847Asp
NM_015040.4:c.3496A>G MANE Select	NP_055855.2:p.Asn1166Asp