Canonical Allele Identifier: CA431117126

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs749635187
• MyVariant Identifiers: chr2:g.209191123T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326399T>C , CM000664.2:g.208326399T>C	GRCh38
NC_000002.11:g.209191123T>C , CM000664.1:g.209191123T>C	GRCh37
NC_000002.10:g.208899368T>C	NCBI36
NG_021188.1:g.65133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3588T>C MANE Select	ENSP00000264380.4:p.Leu1196=
ENST00000264380.8:c.3588T>C	ENSP00000264380.4:p.Leu1196=
ENST00000452564.1:c.3420T>C	ENSP00000405736.1:p.Leu1140=
NM_015040.3:c.3588T>C	NP_055855.2:p.Leu1196=
XM_011510778.1:c.3624T>C	XP_011509080.1:p.Leu1208=
XM_011510779.1:c.3624T>C	XP_011509081.1:p.Leu1208=
XM_011510780.1:c.3621T>C	XP_011509082.1:p.Leu1207=
XM_011510781.1:c.3606T>C	XP_011509083.1:p.Leu1202=
XM_011510782.1:c.3624T>C	XP_011509084.1:p.Leu1208=
XM_011510783.1:c.3456T>C	XP_011509085.1:p.Leu1152=
XM_011510784.1:c.3453T>C	XP_011509086.1:p.Leu1151=
XM_011510785.1:c.3438T>C	XP_011509087.1:p.Leu1146=
XM_011510786.1:c.3333T>C	XP_011509088.1:p.Leu1111=
XM_011510787.1:c.3330T>C	XP_011509089.1:p.Leu1110=
XM_011510788.1:c.3297T>C	XP_011509090.1:p.Leu1099=
XM_011510789.1:c.3147T>C	XP_011509091.1:p.Leu1049=
XM_011510790.1:c.2631T>C	XP_011509092.1:p.Leu877=
XM_011510791.1:c.2631T>C	XP_011509093.1:p.Leu877=
XM_011510792.1:c.3624T>C	XP_011509094.1:p.Leu1208=
XR_922888.1:n.3761T>C
XM_011510778.3:c.3624T>C	XP_011509080.1:p.Leu1208=
XM_011510779.2:c.3624T>C	XP_011509081.1:p.Leu1208=
XM_011510780.2:c.3621T>C	XP_011509082.1:p.Leu1207=
XM_011510781.3:c.3606T>C	XP_011509083.1:p.Leu1202=
XM_011510782.3:c.3624T>C	XP_011509084.1:p.Leu1208=
XM_011510783.3:c.3456T>C	XP_011509085.1:p.Leu1152=
XM_011510784.2:c.3453T>C	XP_011509086.1:p.Leu1151=
XM_011510785.3:c.3438T>C	XP_011509087.1:p.Leu1146=
XM_011510786.3:c.3333T>C	XP_011509088.1:p.Leu1111=
XM_011510789.2:c.3147T>C	XP_011509091.1:p.Leu1049=
XM_011510792.3:c.3624T>C	XP_011509094.1:p.Leu1208=
XM_017003568.1:c.3570T>C	XP_016859057.1:p.Leu1190=
XM_017003569.1:c.3402T>C	XP_016859058.1:p.Leu1134=
XM_017003570.1:c.3129T>C	XP_016859059.1:p.Leu1043=
XM_017003571.1:c.2979T>C	XP_016859060.1:p.Leu993=
XM_017003572.1:c.2631T>C	XP_016859061.1:p.Leu877=
XM_017003573.1:c.2631T>C	XP_016859062.1:p.Leu877=
XM_017003574.1:c.2631T>C	XP_016859063.1:p.Leu877=
NM_015040.4:c.3588T>C MANE Select	NP_055855.2:p.Leu1196=