Canonical Allele Identifier: CA350104487
Community Standard Title: NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)
Gene: PIKFYVE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208298664C>G , CM000664.2:g.208298664C>G GRCh38
NC_000002.11:g.209163388C>G , CM000664.1:g.209163388C>G GRCh37
NC_000002.10:g.208871633C>G NCBI36
NG_021188.1:g.37398C>G

Transcript Alleles

HGVS Amino-acid Change
NM_015040.4:c.935C>G MANE Select NP_055855.2:p.Ser312Ter
ENST00000264380.9:c.935C>G MANE Select ENSP00000264380.4:p.Ser312Ter
NM_001178000.1:c.935C>G NP_001171471.1:p.Ser312Ter
NM_001178000.2:c.935C>G NP_001171471.1:p.Ser312Ter
NM_015040.3:c.935C>G NP_055855.2:p.Ser312Ter
NM_152671.3:c.644C>G NP_689884.1:p.Ser215Ter
NM_152671.4:c.644C>G NP_689884.1:p.Ser215Ter
ENST00000264380.8:c.935C>G ENSP00000264380.4:p.Ser312Ter
ENST00000308862.10:c.677C>G ENSP00000308715.6:p.Ser226Ter
ENST00000392202.7:c.644C>G ENSP00000376038.3:p.Ser215Ter
ENST00000407449.5:c.935C>G ENSP00000384356.1:p.Ser312Ter
ENST00000443896.5:c.*286C>G ENSP00000407692.1:n.*286C>G
ENST00000452564.1:c.935C>G ENSP00000405736.1:p.Ser312Ter
ENST00000477200.1:n.24C>G
XM_011510778.1:c.971C>G XP_011509080.1:p.Ser324Ter
XM_011510778.3:c.971C>G XP_011509080.1:p.Ser324Ter
XM_011510779.1:c.971C>G XP_011509081.1:p.Ser324Ter
XM_011510779.2:c.971C>G XP_011509081.1:p.Ser324Ter
XM_011510780.1:c.968C>G XP_011509082.1:p.Ser323Ter
XM_011510780.2:c.968C>G XP_011509082.1:p.Ser323Ter
XM_011510781.1:c.971C>G XP_011509083.1:p.Ser324Ter
XM_011510781.3:c.971C>G XP_011509083.1:p.Ser324Ter
XM_011510782.1:c.971C>G XP_011509084.1:p.Ser324Ter
XM_011510782.3:c.971C>G XP_011509084.1:p.Ser324Ter
XM_011510783.1:c.971C>G XP_011509085.1:p.Ser324Ter
XM_011510783.3:c.971C>G XP_011509085.1:p.Ser324Ter
XM_011510784.1:c.968C>G XP_011509086.1:p.Ser323Ter
XM_011510784.2:c.968C>G XP_011509086.1:p.Ser323Ter
XM_011510785.1:c.971C>G XP_011509087.1:p.Ser324Ter
XM_011510785.3:c.971C>G XP_011509087.1:p.Ser324Ter
XM_011510786.1:c.680C>G XP_011509088.1:p.Ser227Ter
XM_011510786.3:c.680C>G XP_011509088.1:p.Ser227Ter
XM_011510787.1:c.677C>G XP_011509089.1:p.Ser226Ter
XM_011510788.1:c.644C>G XP_011509090.1:p.Ser215Ter
XM_011510789.1:c.494C>G XP_011509091.1:p.Ser165Ter
XM_011510789.2:c.494C>G XP_011509091.1:p.Ser165Ter
XM_011510790.1:c.-23C>G XP_011509092.1:n.-23C>G
XM_011510791.1:c.-23C>G XP_011509093.1:n.-23C>G
XM_011510792.1:c.971C>G XP_011509094.1:p.Ser324Ter
XM_011510792.3:c.971C>G XP_011509094.1:p.Ser324Ter
XM_017003568.1:c.935C>G XP_016859057.1:p.Ser312Ter
XM_017003569.1:c.935C>G XP_016859058.1:p.Ser312Ter
XM_017003570.1:c.644C>G XP_016859059.1:p.Ser215Ter
XM_017003571.1:c.494C>G XP_016859060.1:p.Ser165Ter
XM_017003572.1:c.-23C>G XP_016859061.1:n.-23C>G
XM_017003573.1:c.-23C>G XP_016859062.1:n.-23C>G
XM_017003574.1:c.-23C>G XP_016859063.1:n.-23C>G
XR_922888.1:n.1108C>G