Canonical Allele Identifier: CA350115464

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190939G>A (hg19) ; chr2:g.208326215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326215G>A , CM000664.2:g.208326215G>A	GRCh38
NC_000002.11:g.209190939G>A , CM000664.1:g.209190939G>A	GRCh37
NC_000002.10:g.208899184G>A	NCBI36
NG_021188.1:g.64949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3404G>A MANE Select	ENSP00000264380.4:p.Ser1135Asn
ENST00000264380.8:c.3404G>A	ENSP00000264380.4:p.Ser1135Asn
ENST00000452564.1:c.3236G>A	ENSP00000405736.1:p.Ser1079Asn
NM_015040.3:c.3404G>A	NP_055855.2:p.Ser1135Asn
XM_011510778.1:c.3440G>A	XP_011509080.1:p.Ser1147Asn
XM_011510779.1:c.3440G>A	XP_011509081.1:p.Ser1147Asn
XM_011510780.1:c.3437G>A	XP_011509082.1:p.Ser1146Asn
XM_011510781.1:c.3422G>A	XP_011509083.1:p.Ser1141Asn
XM_011510782.1:c.3440G>A	XP_011509084.1:p.Ser1147Asn
XM_011510783.1:c.3272G>A	XP_011509085.1:p.Ser1091Asn
XM_011510784.1:c.3269G>A	XP_011509086.1:p.Ser1090Asn
XM_011510785.1:c.3254G>A	XP_011509087.1:p.Ser1085Asn
XM_011510786.1:c.3149G>A	XP_011509088.1:p.Ser1050Asn
XM_011510787.1:c.3146G>A	XP_011509089.1:p.Ser1049Asn
XM_011510788.1:c.3113G>A	XP_011509090.1:p.Ser1038Asn
XM_011510789.1:c.2963G>A	XP_011509091.1:p.Ser988Asn
XM_011510790.1:c.2447G>A	XP_011509092.1:p.Ser816Asn
XM_011510791.1:c.2447G>A	XP_011509093.1:p.Ser816Asn
XM_011510792.1:c.3440G>A	XP_011509094.1:p.Ser1147Asn
XR_922888.1:n.3577G>A
XM_011510778.3:c.3440G>A	XP_011509080.1:p.Ser1147Asn
XM_011510779.2:c.3440G>A	XP_011509081.1:p.Ser1147Asn
XM_011510780.2:c.3437G>A	XP_011509082.1:p.Ser1146Asn
XM_011510781.3:c.3422G>A	XP_011509083.1:p.Ser1141Asn
XM_011510782.3:c.3440G>A	XP_011509084.1:p.Ser1147Asn
XM_011510783.3:c.3272G>A	XP_011509085.1:p.Ser1091Asn
XM_011510784.2:c.3269G>A	XP_011509086.1:p.Ser1090Asn
XM_011510785.3:c.3254G>A	XP_011509087.1:p.Ser1085Asn
XM_011510786.3:c.3149G>A	XP_011509088.1:p.Ser1050Asn
XM_011510789.2:c.2963G>A	XP_011509091.1:p.Ser988Asn
XM_011510792.3:c.3440G>A	XP_011509094.1:p.Ser1147Asn
XM_017003568.1:c.3386G>A	XP_016859057.1:p.Ser1129Asn
XM_017003569.1:c.3218G>A	XP_016859058.1:p.Ser1073Asn
XM_017003570.1:c.2945G>A	XP_016859059.1:p.Ser982Asn
XM_017003571.1:c.2795G>A	XP_016859060.1:p.Ser932Asn
XM_017003572.1:c.2447G>A	XP_016859061.1:p.Ser816Asn
XM_017003573.1:c.2447G>A	XP_016859062.1:p.Ser816Asn
XM_017003574.1:c.2447G>A	XP_016859063.1:p.Ser816Asn
NM_015040.4:c.3404G>A MANE Select	NP_055855.2:p.Ser1135Asn