Canonical Allele Identifier: CA7199693

Gene: TMEM260

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56585867T>C , CM000676.2:g.56585867T>C	GRCh38
NC_000014.8:g.57052585T>C , CM000676.1:g.57052585T>C	GRCh37
NC_000014.7:g.56122338T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017799.4:c.299T>C MANE Select	NP_060269.3:p.Leu100Ser
ENST00000261556.11:c.299T>C MANE Select	ENSP00000261556.6:p.Leu100Ser
NM_017799.3:c.299T>C	NP_060269.3:p.Leu100Ser
ENST00000261556.10:c.299T>C	ENSP00000261556.6:p.Leu100Ser
ENST00000538838.5:c.299T>C	ENSP00000441934.1:p.Leu100Ser
ENST00000539559.6:c.299T>C	ENSP00000442602.2:p.Leu100Ser
ENST00000554981.1:n.174T>C
ENST00000555497.5:c.299T>C	ENSP00000452065.1:p.Leu100Ser
ENST00000556079.1:n.175T>C
ENST00000556422.5:c.-170T>C	ENSP00000450988.1:n.-170T>C
ENST00000556810.5:c.188T>C	ENSP00000451677.1:p.Leu63Ser
ENST00000556929.5:c.13T>C
ENST00000556975.5:n.388T>C
ENST00000557626.5:n.383T>C
ENST00000557657.5:n.389T>C
XM_005267771.1:c.-628T>C	XP_005267828.1:n.-628T>C
XM_006720176.1:c.-364T>C	XP_006720239.1:n.-364T>C
XM_006720177.2:c.299T>C	XP_006720240.1:p.Leu100Ser
XM_006720178.1:c.-450T>C	XP_006720241.1:n.-450T>C
XM_011536850.1:c.299T>C	XP_011535152.1:p.Leu100Ser
XM_011536851.1:c.299T>C	XP_011535153.1:p.Leu100Ser
XM_011536851.2:c.299T>C	XP_011535153.1:p.Leu100Ser
XM_011536852.1:c.-78T>C	XP_011535154.1:n.-78T>C
XM_011536853.1:c.-373T>C	XP_011535155.1:n.-373T>C
XM_011536854.1:c.299T>C	XP_011535156.1:p.Leu100Ser
XM_017021379.2:c.299T>C	XP_016876868.1:p.Leu100Ser
XM_017021380.1:c.-364T>C	XP_016876869.1:n.-364T>C
XM_024449636.1:c.-628T>C	XP_024305404.1:n.-628T>C
XR_001750382.2:n.422T>C
XR_001750384.2:n.422T>C
XR_001750385.2:n.422T>C
XR_001750386.2:n.422T>C
XR_001750387.2:n.422T>C
XR_245695.1:n.423T>C
XR_245695.2:n.422T>C
XR_943481.1:n.423T>C