Canonical Allele Identifier: CA350115600

Gene: PIKFYVE

Linked Data

• MyVariant Identifiers: chr2:g.209190999A>C (hg19) ; chr2:g.208326275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326275A>C , CM000664.2:g.208326275A>C	GRCh38
NC_000002.11:g.209190999A>C , CM000664.1:g.209190999A>C	GRCh37
NC_000002.10:g.208899244A>C	NCBI36
NG_021188.1:g.65009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3464A>C MANE Select	ENSP00000264380.4:p.Tyr1155Ser
ENST00000264380.8:c.3464A>C	ENSP00000264380.4:p.Tyr1155Ser
ENST00000452564.1:c.3296A>C	ENSP00000405736.1:p.Tyr1099Ser
NM_015040.3:c.3464A>C	NP_055855.2:p.Tyr1155Ser
XM_011510778.1:c.3500A>C	XP_011509080.1:p.Tyr1167Ser
XM_011510779.1:c.3500A>C	XP_011509081.1:p.Tyr1167Ser
XM_011510780.1:c.3497A>C	XP_011509082.1:p.Tyr1166Ser
XM_011510781.1:c.3482A>C	XP_011509083.1:p.Tyr1161Ser
XM_011510782.1:c.3500A>C	XP_011509084.1:p.Tyr1167Ser
XM_011510783.1:c.3332A>C	XP_011509085.1:p.Tyr1111Ser
XM_011510784.1:c.3329A>C	XP_011509086.1:p.Tyr1110Ser
XM_011510785.1:c.3314A>C	XP_011509087.1:p.Tyr1105Ser
XM_011510786.1:c.3209A>C	XP_011509088.1:p.Tyr1070Ser
XM_011510787.1:c.3206A>C	XP_011509089.1:p.Tyr1069Ser
XM_011510788.1:c.3173A>C	XP_011509090.1:p.Tyr1058Ser
XM_011510789.1:c.3023A>C	XP_011509091.1:p.Tyr1008Ser
XM_011510790.1:c.2507A>C	XP_011509092.1:p.Tyr836Ser
XM_011510791.1:c.2507A>C	XP_011509093.1:p.Tyr836Ser
XM_011510792.1:c.3500A>C	XP_011509094.1:p.Tyr1167Ser
XR_922888.1:n.3637A>C
XM_011510778.3:c.3500A>C	XP_011509080.1:p.Tyr1167Ser
XM_011510779.2:c.3500A>C	XP_011509081.1:p.Tyr1167Ser
XM_011510780.2:c.3497A>C	XP_011509082.1:p.Tyr1166Ser
XM_011510781.3:c.3482A>C	XP_011509083.1:p.Tyr1161Ser
XM_011510782.3:c.3500A>C	XP_011509084.1:p.Tyr1167Ser
XM_011510783.3:c.3332A>C	XP_011509085.1:p.Tyr1111Ser
XM_011510784.2:c.3329A>C	XP_011509086.1:p.Tyr1110Ser
XM_011510785.3:c.3314A>C	XP_011509087.1:p.Tyr1105Ser
XM_011510786.3:c.3209A>C	XP_011509088.1:p.Tyr1070Ser
XM_011510789.2:c.3023A>C	XP_011509091.1:p.Tyr1008Ser
XM_011510792.3:c.3500A>C	XP_011509094.1:p.Tyr1167Ser
XM_017003568.1:c.3446A>C	XP_016859057.1:p.Tyr1149Ser
XM_017003569.1:c.3278A>C	XP_016859058.1:p.Tyr1093Ser
XM_017003570.1:c.3005A>C	XP_016859059.1:p.Tyr1002Ser
XM_017003571.1:c.2855A>C	XP_016859060.1:p.Tyr952Ser
XM_017003572.1:c.2507A>C	XP_016859061.1:p.Tyr836Ser
XM_017003573.1:c.2507A>C	XP_016859062.1:p.Tyr836Ser
XM_017003574.1:c.2507A>C	XP_016859063.1:p.Tyr836Ser
NM_015040.4:c.3464A>C MANE Select	NP_055855.2:p.Tyr1155Ser