Canonical Allele Identifier: CA431117035

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326282-C-T
• MyVariant Identifiers: chr2:g.209191006C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326282C>T , CM000664.2:g.208326282C>T	GRCh38
NC_000002.11:g.209191006C>T , CM000664.1:g.209191006C>T	GRCh37
NC_000002.10:g.208899251C>T	NCBI36
NG_021188.1:g.65016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3471C>T MANE Select	ENSP00000264380.4:p.Ala1157=
ENST00000264380.8:c.3471C>T	ENSP00000264380.4:p.Ala1157=
ENST00000452564.1:c.3303C>T	ENSP00000405736.1:p.Ala1101=
NM_015040.3:c.3471C>T	NP_055855.2:p.Ala1157=
XM_011510778.1:c.3507C>T	XP_011509080.1:p.Ala1169=
XM_011510779.1:c.3507C>T	XP_011509081.1:p.Ala1169=
XM_011510780.1:c.3504C>T	XP_011509082.1:p.Ala1168=
XM_011510781.1:c.3489C>T	XP_011509083.1:p.Ala1163=
XM_011510782.1:c.3507C>T	XP_011509084.1:p.Ala1169=
XM_011510783.1:c.3339C>T	XP_011509085.1:p.Ala1113=
XM_011510784.1:c.3336C>T	XP_011509086.1:p.Ala1112=
XM_011510785.1:c.3321C>T	XP_011509087.1:p.Ala1107=
XM_011510786.1:c.3216C>T	XP_011509088.1:p.Ala1072=
XM_011510787.1:c.3213C>T	XP_011509089.1:p.Ala1071=
XM_011510788.1:c.3180C>T	XP_011509090.1:p.Ala1060=
XM_011510789.1:c.3030C>T	XP_011509091.1:p.Ala1010=
XM_011510790.1:c.2514C>T	XP_011509092.1:p.Ala838=
XM_011510791.1:c.2514C>T	XP_011509093.1:p.Ala838=
XM_011510792.1:c.3507C>T	XP_011509094.1:p.Ala1169=
XR_922888.1:n.3644C>T
XM_011510778.3:c.3507C>T	XP_011509080.1:p.Ala1169=
XM_011510779.2:c.3507C>T	XP_011509081.1:p.Ala1169=
XM_011510780.2:c.3504C>T	XP_011509082.1:p.Ala1168=
XM_011510781.3:c.3489C>T	XP_011509083.1:p.Ala1163=
XM_011510782.3:c.3507C>T	XP_011509084.1:p.Ala1169=
XM_011510783.3:c.3339C>T	XP_011509085.1:p.Ala1113=
XM_011510784.2:c.3336C>T	XP_011509086.1:p.Ala1112=
XM_011510785.3:c.3321C>T	XP_011509087.1:p.Ala1107=
XM_011510786.3:c.3216C>T	XP_011509088.1:p.Ala1072=
XM_011510789.2:c.3030C>T	XP_011509091.1:p.Ala1010=
XM_011510792.3:c.3507C>T	XP_011509094.1:p.Ala1169=
XM_017003568.1:c.3453C>T	XP_016859057.1:p.Ala1151=
XM_017003569.1:c.3285C>T	XP_016859058.1:p.Ala1095=
XM_017003570.1:c.3012C>T	XP_016859059.1:p.Ala1004=
XM_017003571.1:c.2862C>T	XP_016859060.1:p.Ala954=
XM_017003572.1:c.2514C>T	XP_016859061.1:p.Ala838=
XM_017003573.1:c.2514C>T	XP_016859062.1:p.Ala838=
XM_017003574.1:c.2514C>T	XP_016859063.1:p.Ala838=
NM_015040.4:c.3471C>T MANE Select	NP_055855.2:p.Ala1157=