Canonical Allele Identifier: CA350115429

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190923T>C (hg19) ; chr2:g.208326199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326199T>C , CM000664.2:g.208326199T>C	GRCh38
NC_000002.11:g.209190923T>C , CM000664.1:g.209190923T>C	GRCh37
NC_000002.10:g.208899168T>C	NCBI36
NG_021188.1:g.64933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3388T>C MANE Select	ENSP00000264380.4:p.Ser1130Pro
ENST00000264380.8:c.3388T>C	ENSP00000264380.4:p.Ser1130Pro
ENST00000452564.1:c.3220T>C	ENSP00000405736.1:p.Ser1074Pro
NM_015040.3:c.3388T>C	NP_055855.2:p.Ser1130Pro
XM_011510778.1:c.3424T>C	XP_011509080.1:p.Ser1142Pro
XM_011510779.1:c.3424T>C	XP_011509081.1:p.Ser1142Pro
XM_011510780.1:c.3421T>C	XP_011509082.1:p.Ser1141Pro
XM_011510781.1:c.3406T>C	XP_011509083.1:p.Ser1136Pro
XM_011510782.1:c.3424T>C	XP_011509084.1:p.Ser1142Pro
XM_011510783.1:c.3256T>C	XP_011509085.1:p.Ser1086Pro
XM_011510784.1:c.3253T>C	XP_011509086.1:p.Ser1085Pro
XM_011510785.1:c.3238T>C	XP_011509087.1:p.Ser1080Pro
XM_011510786.1:c.3133T>C	XP_011509088.1:p.Ser1045Pro
XM_011510787.1:c.3130T>C	XP_011509089.1:p.Ser1044Pro
XM_011510788.1:c.3097T>C	XP_011509090.1:p.Ser1033Pro
XM_011510789.1:c.2947T>C	XP_011509091.1:p.Ser983Pro
XM_011510790.1:c.2431T>C	XP_011509092.1:p.Ser811Pro
XM_011510791.1:c.2431T>C	XP_011509093.1:p.Ser811Pro
XM_011510792.1:c.3424T>C	XP_011509094.1:p.Ser1142Pro
XR_922888.1:n.3561T>C
XM_011510778.3:c.3424T>C	XP_011509080.1:p.Ser1142Pro
XM_011510779.2:c.3424T>C	XP_011509081.1:p.Ser1142Pro
XM_011510780.2:c.3421T>C	XP_011509082.1:p.Ser1141Pro
XM_011510781.3:c.3406T>C	XP_011509083.1:p.Ser1136Pro
XM_011510782.3:c.3424T>C	XP_011509084.1:p.Ser1142Pro
XM_011510783.3:c.3256T>C	XP_011509085.1:p.Ser1086Pro
XM_011510784.2:c.3253T>C	XP_011509086.1:p.Ser1085Pro
XM_011510785.3:c.3238T>C	XP_011509087.1:p.Ser1080Pro
XM_011510786.3:c.3133T>C	XP_011509088.1:p.Ser1045Pro
XM_011510789.2:c.2947T>C	XP_011509091.1:p.Ser983Pro
XM_011510792.3:c.3424T>C	XP_011509094.1:p.Ser1142Pro
XM_017003568.1:c.3370T>C	XP_016859057.1:p.Ser1124Pro
XM_017003569.1:c.3202T>C	XP_016859058.1:p.Ser1068Pro
XM_017003570.1:c.2929T>C	XP_016859059.1:p.Ser977Pro
XM_017003571.1:c.2779T>C	XP_016859060.1:p.Ser927Pro
XM_017003572.1:c.2431T>C	XP_016859061.1:p.Ser811Pro
XM_017003573.1:c.2431T>C	XP_016859062.1:p.Ser811Pro
XM_017003574.1:c.2431T>C	XP_016859063.1:p.Ser811Pro
NM_015040.4:c.3388T>C MANE Select	NP_055855.2:p.Ser1130Pro