Canonical Allele Identifier: CA431117025

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209191000T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326276T>C , CM000664.2:g.208326276T>C	GRCh38
NC_000002.11:g.209191000T>C , CM000664.1:g.209191000T>C	GRCh37
NC_000002.10:g.208899245T>C	NCBI36
NG_021188.1:g.65010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3465T>C MANE Select	ENSP00000264380.4:p.Tyr1155=
ENST00000264380.8:c.3465T>C	ENSP00000264380.4:p.Tyr1155=
ENST00000452564.1:c.3297T>C	ENSP00000405736.1:p.Tyr1099=
NM_015040.3:c.3465T>C	NP_055855.2:p.Tyr1155=
XM_011510778.1:c.3501T>C	XP_011509080.1:p.Tyr1167=
XM_011510779.1:c.3501T>C	XP_011509081.1:p.Tyr1167=
XM_011510780.1:c.3498T>C	XP_011509082.1:p.Tyr1166=
XM_011510781.1:c.3483T>C	XP_011509083.1:p.Tyr1161=
XM_011510782.1:c.3501T>C	XP_011509084.1:p.Tyr1167=
XM_011510783.1:c.3333T>C	XP_011509085.1:p.Tyr1111=
XM_011510784.1:c.3330T>C	XP_011509086.1:p.Tyr1110=
XM_011510785.1:c.3315T>C	XP_011509087.1:p.Tyr1105=
XM_011510786.1:c.3210T>C	XP_011509088.1:p.Tyr1070=
XM_011510787.1:c.3207T>C	XP_011509089.1:p.Tyr1069=
XM_011510788.1:c.3174T>C	XP_011509090.1:p.Tyr1058=
XM_011510789.1:c.3024T>C	XP_011509091.1:p.Tyr1008=
XM_011510790.1:c.2508T>C	XP_011509092.1:p.Tyr836=
XM_011510791.1:c.2508T>C	XP_011509093.1:p.Tyr836=
XM_011510792.1:c.3501T>C	XP_011509094.1:p.Tyr1167=
XR_922888.1:n.3638T>C
XM_011510778.3:c.3501T>C	XP_011509080.1:p.Tyr1167=
XM_011510779.2:c.3501T>C	XP_011509081.1:p.Tyr1167=
XM_011510780.2:c.3498T>C	XP_011509082.1:p.Tyr1166=
XM_011510781.3:c.3483T>C	XP_011509083.1:p.Tyr1161=
XM_011510782.3:c.3501T>C	XP_011509084.1:p.Tyr1167=
XM_011510783.3:c.3333T>C	XP_011509085.1:p.Tyr1111=
XM_011510784.2:c.3330T>C	XP_011509086.1:p.Tyr1110=
XM_011510785.3:c.3315T>C	XP_011509087.1:p.Tyr1105=
XM_011510786.3:c.3210T>C	XP_011509088.1:p.Tyr1070=
XM_011510789.2:c.3024T>C	XP_011509091.1:p.Tyr1008=
XM_011510792.3:c.3501T>C	XP_011509094.1:p.Tyr1167=
XM_017003568.1:c.3447T>C	XP_016859057.1:p.Tyr1149=
XM_017003569.1:c.3279T>C	XP_016859058.1:p.Tyr1093=
XM_017003570.1:c.3006T>C	XP_016859059.1:p.Tyr1002=
XM_017003571.1:c.2856T>C	XP_016859060.1:p.Tyr952=
XM_017003572.1:c.2508T>C	XP_016859061.1:p.Tyr836=
XM_017003573.1:c.2508T>C	XP_016859062.1:p.Tyr836=
XM_017003574.1:c.2508T>C	XP_016859063.1:p.Tyr836=
NM_015040.4:c.3465T>C MANE Select	NP_055855.2:p.Tyr1155=