Canonical Allele Identifier: CA350115599

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190998T>G (hg19) ; chr2:g.208326274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326274T>G , CM000664.2:g.208326274T>G	GRCh38
NC_000002.11:g.209190998T>G , CM000664.1:g.209190998T>G	GRCh37
NC_000002.10:g.208899243T>G	NCBI36
NG_021188.1:g.65008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3463T>G MANE Select	ENSP00000264380.4:p.Tyr1155Asp
ENST00000264380.8:c.3463T>G	ENSP00000264380.4:p.Tyr1155Asp
ENST00000452564.1:c.3295T>G	ENSP00000405736.1:p.Tyr1099Asp
NM_015040.3:c.3463T>G	NP_055855.2:p.Tyr1155Asp
XM_011510778.1:c.3499T>G	XP_011509080.1:p.Tyr1167Asp
XM_011510779.1:c.3499T>G	XP_011509081.1:p.Tyr1167Asp
XM_011510780.1:c.3496T>G	XP_011509082.1:p.Tyr1166Asp
XM_011510781.1:c.3481T>G	XP_011509083.1:p.Tyr1161Asp
XM_011510782.1:c.3499T>G	XP_011509084.1:p.Tyr1167Asp
XM_011510783.1:c.3331T>G	XP_011509085.1:p.Tyr1111Asp
XM_011510784.1:c.3328T>G	XP_011509086.1:p.Tyr1110Asp
XM_011510785.1:c.3313T>G	XP_011509087.1:p.Tyr1105Asp
XM_011510786.1:c.3208T>G	XP_011509088.1:p.Tyr1070Asp
XM_011510787.1:c.3205T>G	XP_011509089.1:p.Tyr1069Asp
XM_011510788.1:c.3172T>G	XP_011509090.1:p.Tyr1058Asp
XM_011510789.1:c.3022T>G	XP_011509091.1:p.Tyr1008Asp
XM_011510790.1:c.2506T>G	XP_011509092.1:p.Tyr836Asp
XM_011510791.1:c.2506T>G	XP_011509093.1:p.Tyr836Asp
XM_011510792.1:c.3499T>G	XP_011509094.1:p.Tyr1167Asp
XR_922888.1:n.3636T>G
XM_011510778.3:c.3499T>G	XP_011509080.1:p.Tyr1167Asp
XM_011510779.2:c.3499T>G	XP_011509081.1:p.Tyr1167Asp
XM_011510780.2:c.3496T>G	XP_011509082.1:p.Tyr1166Asp
XM_011510781.3:c.3481T>G	XP_011509083.1:p.Tyr1161Asp
XM_011510782.3:c.3499T>G	XP_011509084.1:p.Tyr1167Asp
XM_011510783.3:c.3331T>G	XP_011509085.1:p.Tyr1111Asp
XM_011510784.2:c.3328T>G	XP_011509086.1:p.Tyr1110Asp
XM_011510785.3:c.3313T>G	XP_011509087.1:p.Tyr1105Asp
XM_011510786.3:c.3208T>G	XP_011509088.1:p.Tyr1070Asp
XM_011510789.2:c.3022T>G	XP_011509091.1:p.Tyr1008Asp
XM_011510792.3:c.3499T>G	XP_011509094.1:p.Tyr1167Asp
XM_017003568.1:c.3445T>G	XP_016859057.1:p.Tyr1149Asp
XM_017003569.1:c.3277T>G	XP_016859058.1:p.Tyr1093Asp
XM_017003570.1:c.3004T>G	XP_016859059.1:p.Tyr1002Asp
XM_017003571.1:c.2854T>G	XP_016859060.1:p.Tyr952Asp
XM_017003572.1:c.2506T>G	XP_016859061.1:p.Tyr836Asp
XM_017003573.1:c.2506T>G	XP_016859062.1:p.Tyr836Asp
XM_017003574.1:c.2506T>G	XP_016859063.1:p.Tyr836Asp
NM_015040.4:c.3463T>G MANE Select	NP_055855.2:p.Tyr1155Asp