Canonical Allele Identifier: CA7200079

Gene: TMEM260

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56625394G>A , CM000676.2:g.56625394G>A	GRCh38
NC_000014.8:g.57092112G>A , CM000676.1:g.57092112G>A	GRCh37
NC_000014.7:g.56161865G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017799.4:c.1411G>A MANE Select	NP_060269.3:p.Glu471Lys
ENST00000261556.11:c.1411G>A MANE Select	ENSP00000261556.6:p.Glu471Lys
NM_017799.3:c.1411G>A	NP_060269.3:p.Glu471Lys
ENST00000261556.10:c.1411G>A	ENSP00000261556.6:p.Glu471Lys
ENST00000538838.5:c.*9G>A	ENSP00000441934.1:n.*9G>A
ENST00000539559.6:c.*321G>A	ENSP00000442602.2:n.*321G>A
ENST00000555497.5:c.*713G>A	ENSP00000452065.1:n.*713G>A
ENST00000555905.5:c.453G>A
ENST00000556422.5:c.*9G>A	ENSP00000450988.1:n.*9G>A
ENST00000556648.1:n.875G>A
XM_005267771.1:c.370G>A	XP_005267828.1:p.Glu124Lys
XM_006720176.1:c.571G>A	XP_006720239.1:p.Glu191Lys
XM_006720178.1:c.370G>A	XP_006720241.1:p.Glu124Lys
XM_011536850.1:c.1276G>A	XP_011535152.1:p.Glu426Lys
XM_011536851.1:c.1411G>A	XP_011535153.1:p.Glu471Lys
XM_011536851.2:c.1411G>A	XP_011535153.1:p.Glu471Lys
XM_011536852.1:c.1060G>A	XP_011535154.1:p.Glu354Lys
XM_011536853.1:c.943G>A	XP_011535155.1:p.Glu315Lys
XM_011536855.1:c.538G>A	XP_011535157.1:p.Glu180Lys
XM_011536856.1:c.370G>A	XP_011535158.1:p.Glu124Lys
XM_017021379.2:c.1411G>A	XP_016876868.1:p.Glu471Lys
XM_017021380.1:c.571G>A	XP_016876869.1:p.Glu191Lys
XM_024449636.1:c.370G>A	XP_024305404.1:p.Glu124Lys
XR_001750382.2:n.1534G>A
XR_001750384.2:n.1605G>A
XR_001750385.2:n.1628G>A
XR_001750386.2:n.1699G>A
XR_001750387.2:n.1362G>A
XR_245695.1:n.1363G>A
XR_245695.2:n.1362G>A
XR_943481.1:n.1535G>A