Canonical Allele Identifier: CA350115457

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326211-G-C
• MyVariant Identifiers: chr2:g.209190935G>C (hg19) ; chr2:g.208326211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326211G>C , CM000664.2:g.208326211G>C	GRCh38
NC_000002.11:g.209190935G>C , CM000664.1:g.209190935G>C	GRCh37
NC_000002.10:g.208899180G>C	NCBI36
NG_021188.1:g.64945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3400G>C MANE Select	ENSP00000264380.4:p.Val1134Leu
ENST00000264380.8:c.3400G>C	ENSP00000264380.4:p.Val1134Leu
ENST00000452564.1:c.3232G>C	ENSP00000405736.1:p.Val1078Leu
NM_015040.3:c.3400G>C	NP_055855.2:p.Val1134Leu
XM_011510778.1:c.3436G>C	XP_011509080.1:p.Val1146Leu
XM_011510779.1:c.3436G>C	XP_011509081.1:p.Val1146Leu
XM_011510780.1:c.3433G>C	XP_011509082.1:p.Val1145Leu
XM_011510781.1:c.3418G>C	XP_011509083.1:p.Val1140Leu
XM_011510782.1:c.3436G>C	XP_011509084.1:p.Val1146Leu
XM_011510783.1:c.3268G>C	XP_011509085.1:p.Val1090Leu
XM_011510784.1:c.3265G>C	XP_011509086.1:p.Val1089Leu
XM_011510785.1:c.3250G>C	XP_011509087.1:p.Val1084Leu
XM_011510786.1:c.3145G>C	XP_011509088.1:p.Val1049Leu
XM_011510787.1:c.3142G>C	XP_011509089.1:p.Val1048Leu
XM_011510788.1:c.3109G>C	XP_011509090.1:p.Val1037Leu
XM_011510789.1:c.2959G>C	XP_011509091.1:p.Val987Leu
XM_011510790.1:c.2443G>C	XP_011509092.1:p.Val815Leu
XM_011510791.1:c.2443G>C	XP_011509093.1:p.Val815Leu
XM_011510792.1:c.3436G>C	XP_011509094.1:p.Val1146Leu
XR_922888.1:n.3573G>C
XM_011510778.3:c.3436G>C	XP_011509080.1:p.Val1146Leu
XM_011510779.2:c.3436G>C	XP_011509081.1:p.Val1146Leu
XM_011510780.2:c.3433G>C	XP_011509082.1:p.Val1145Leu
XM_011510781.3:c.3418G>C	XP_011509083.1:p.Val1140Leu
XM_011510782.3:c.3436G>C	XP_011509084.1:p.Val1146Leu
XM_011510783.3:c.3268G>C	XP_011509085.1:p.Val1090Leu
XM_011510784.2:c.3265G>C	XP_011509086.1:p.Val1089Leu
XM_011510785.3:c.3250G>C	XP_011509087.1:p.Val1084Leu
XM_011510786.3:c.3145G>C	XP_011509088.1:p.Val1049Leu
XM_011510789.2:c.2959G>C	XP_011509091.1:p.Val987Leu
XM_011510792.3:c.3436G>C	XP_011509094.1:p.Val1146Leu
XM_017003568.1:c.3382G>C	XP_016859057.1:p.Val1128Leu
XM_017003569.1:c.3214G>C	XP_016859058.1:p.Val1072Leu
XM_017003570.1:c.2941G>C	XP_016859059.1:p.Val981Leu
XM_017003571.1:c.2791G>C	XP_016859060.1:p.Val931Leu
XM_017003572.1:c.2443G>C	XP_016859061.1:p.Val815Leu
XM_017003573.1:c.2443G>C	XP_016859062.1:p.Val815Leu
XM_017003574.1:c.2443G>C	XP_016859063.1:p.Val815Leu
NM_015040.4:c.3400G>C MANE Select	NP_055855.2:p.Val1134Leu