Canonical Allele Identifier: CA64596724

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs899049915
• gnomAD v2: 2-209191001-C-T
• gnomAD v3: 2-208326277-C-T
• gnomAD v4: 2-208326277-C-T
• MyVariant Identifiers: chr2:g.209191001C>T (hg19) ; chr2:g.208326277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326277C>T , CM000664.2:g.208326277C>T	GRCh38
NC_000002.11:g.209191001C>T , CM000664.1:g.209191001C>T	GRCh37
NC_000002.10:g.208899246C>T	NCBI36
NG_021188.1:g.65011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3466C>T MANE Select	ENSP00000264380.4:p.Arg1156Ter
ENST00000264380.8:c.3466C>T	ENSP00000264380.4:p.Arg1156Ter
ENST00000452564.1:c.3298C>T	ENSP00000405736.1:p.Arg1100Ter
NM_015040.3:c.3466C>T	NP_055855.2:p.Arg1156Ter
XM_011510778.1:c.3502C>T	XP_011509080.1:p.Arg1168Ter
XM_011510779.1:c.3502C>T	XP_011509081.1:p.Arg1168Ter
XM_011510780.1:c.3499C>T	XP_011509082.1:p.Arg1167Ter
XM_011510781.1:c.3484C>T	XP_011509083.1:p.Arg1162Ter
XM_011510782.1:c.3502C>T	XP_011509084.1:p.Arg1168Ter
XM_011510783.1:c.3334C>T	XP_011509085.1:p.Arg1112Ter
XM_011510784.1:c.3331C>T	XP_011509086.1:p.Arg1111Ter
XM_011510785.1:c.3316C>T	XP_011509087.1:p.Arg1106Ter
XM_011510786.1:c.3211C>T	XP_011509088.1:p.Arg1071Ter
XM_011510787.1:c.3208C>T	XP_011509089.1:p.Arg1070Ter
XM_011510788.1:c.3175C>T	XP_011509090.1:p.Arg1059Ter
XM_011510789.1:c.3025C>T	XP_011509091.1:p.Arg1009Ter
XM_011510790.1:c.2509C>T	XP_011509092.1:p.Arg837Ter
XM_011510791.1:c.2509C>T	XP_011509093.1:p.Arg837Ter
XM_011510792.1:c.3502C>T	XP_011509094.1:p.Arg1168Ter
XR_922888.1:n.3639C>T
XM_011510778.3:c.3502C>T	XP_011509080.1:p.Arg1168Ter
XM_011510779.2:c.3502C>T	XP_011509081.1:p.Arg1168Ter
XM_011510780.2:c.3499C>T	XP_011509082.1:p.Arg1167Ter
XM_011510781.3:c.3484C>T	XP_011509083.1:p.Arg1162Ter
XM_011510782.3:c.3502C>T	XP_011509084.1:p.Arg1168Ter
XM_011510783.3:c.3334C>T	XP_011509085.1:p.Arg1112Ter
XM_011510784.2:c.3331C>T	XP_011509086.1:p.Arg1111Ter
XM_011510785.3:c.3316C>T	XP_011509087.1:p.Arg1106Ter
XM_011510786.3:c.3211C>T	XP_011509088.1:p.Arg1071Ter
XM_011510789.2:c.3025C>T	XP_011509091.1:p.Arg1009Ter
XM_011510792.3:c.3502C>T	XP_011509094.1:p.Arg1168Ter
XM_017003568.1:c.3448C>T	XP_016859057.1:p.Arg1150Ter
XM_017003569.1:c.3280C>T	XP_016859058.1:p.Arg1094Ter
XM_017003570.1:c.3007C>T	XP_016859059.1:p.Arg1003Ter
XM_017003571.1:c.2857C>T	XP_016859060.1:p.Arg953Ter
XM_017003572.1:c.2509C>T	XP_016859061.1:p.Arg837Ter
XM_017003573.1:c.2509C>T	XP_016859062.1:p.Arg837Ter
XM_017003574.1:c.2509C>T	XP_016859063.1:p.Arg837Ter
NM_015040.4:c.3466C>T MANE Select	NP_055855.2:p.Arg1156Ter