Canonical Allele Identifier: CA350115753

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326346-A-T
• MyVariant Identifiers: chr2:g.209191070A>T (hg19) ; chr2:g.208326346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326346A>T , CM000664.2:g.208326346A>T	GRCh38
NC_000002.11:g.209191070A>T , CM000664.1:g.209191070A>T	GRCh37
NC_000002.10:g.208899315A>T	NCBI36
NG_021188.1:g.65080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3535A>T MANE Select	ENSP00000264380.4:p.Thr1179Ser
ENST00000264380.8:c.3535A>T	ENSP00000264380.4:p.Thr1179Ser
ENST00000452564.1:c.3367A>T	ENSP00000405736.1:p.Thr1123Ser
NM_015040.3:c.3535A>T	NP_055855.2:p.Thr1179Ser
XM_011510778.1:c.3571A>T	XP_011509080.1:p.Thr1191Ser
XM_011510779.1:c.3571A>T	XP_011509081.1:p.Thr1191Ser
XM_011510780.1:c.3568A>T	XP_011509082.1:p.Thr1190Ser
XM_011510781.1:c.3553A>T	XP_011509083.1:p.Thr1185Ser
XM_011510782.1:c.3571A>T	XP_011509084.1:p.Thr1191Ser
XM_011510783.1:c.3403A>T	XP_011509085.1:p.Thr1135Ser
XM_011510784.1:c.3400A>T	XP_011509086.1:p.Thr1134Ser
XM_011510785.1:c.3385A>T	XP_011509087.1:p.Thr1129Ser
XM_011510786.1:c.3280A>T	XP_011509088.1:p.Thr1094Ser
XM_011510787.1:c.3277A>T	XP_011509089.1:p.Thr1093Ser
XM_011510788.1:c.3244A>T	XP_011509090.1:p.Thr1082Ser
XM_011510789.1:c.3094A>T	XP_011509091.1:p.Thr1032Ser
XM_011510790.1:c.2578A>T	XP_011509092.1:p.Thr860Ser
XM_011510791.1:c.2578A>T	XP_011509093.1:p.Thr860Ser
XM_011510792.1:c.3571A>T	XP_011509094.1:p.Thr1191Ser
XR_922888.1:n.3708A>T
XM_011510778.3:c.3571A>T	XP_011509080.1:p.Thr1191Ser
XM_011510779.2:c.3571A>T	XP_011509081.1:p.Thr1191Ser
XM_011510780.2:c.3568A>T	XP_011509082.1:p.Thr1190Ser
XM_011510781.3:c.3553A>T	XP_011509083.1:p.Thr1185Ser
XM_011510782.3:c.3571A>T	XP_011509084.1:p.Thr1191Ser
XM_011510783.3:c.3403A>T	XP_011509085.1:p.Thr1135Ser
XM_011510784.2:c.3400A>T	XP_011509086.1:p.Thr1134Ser
XM_011510785.3:c.3385A>T	XP_011509087.1:p.Thr1129Ser
XM_011510786.3:c.3280A>T	XP_011509088.1:p.Thr1094Ser
XM_011510789.2:c.3094A>T	XP_011509091.1:p.Thr1032Ser
XM_011510792.3:c.3571A>T	XP_011509094.1:p.Thr1191Ser
XM_017003568.1:c.3517A>T	XP_016859057.1:p.Thr1173Ser
XM_017003569.1:c.3349A>T	XP_016859058.1:p.Thr1117Ser
XM_017003570.1:c.3076A>T	XP_016859059.1:p.Thr1026Ser
XM_017003571.1:c.2926A>T	XP_016859060.1:p.Thr976Ser
XM_017003572.1:c.2578A>T	XP_016859061.1:p.Thr860Ser
XM_017003573.1:c.2578A>T	XP_016859062.1:p.Thr860Ser
XM_017003574.1:c.2578A>T	XP_016859063.1:p.Thr860Ser
NM_015040.4:c.3535A>T MANE Select	NP_055855.2:p.Thr1179Ser