Canonical Allele Identifier: CA7200243

Gene: TMEM260

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56636510T>C , CM000676.2:g.56636510T>C	GRCh38
NC_000014.8:g.57103228T>C , CM000676.1:g.57103228T>C	GRCh37
NC_000014.7:g.56172981T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017799.4:c.1781T>C MANE Select	NP_060269.3:p.Met594Thr
ENST00000261556.11:c.1781T>C MANE Select	ENSP00000261556.6:p.Met594Thr
NM_017799.3:c.1781T>C	NP_060269.3:p.Met594Thr
ENST00000261556.10:c.1781T>C	ENSP00000261556.6:p.Met594Thr
ENST00000539559.6:c.*691T>C	ENSP00000442602.2:n.*691T>C
ENST00000555497.5:c.*1083T>C	ENSP00000452065.1:n.*1083T>C
ENST00000556422.5:c.*379T>C	ENSP00000450988.1:n.*379T>C
ENST00000556648.1:n.1245T>C
XM_005267771.1:c.740T>C	XP_005267828.1:p.Met247Thr
XM_006720176.1:c.941T>C	XP_006720239.1:p.Met314Thr
XM_006720178.1:c.740T>C	XP_006720241.1:p.Met247Thr
XM_011536850.1:c.1646T>C	XP_011535152.1:p.Met549Thr
XM_011536851.1:c.1781T>C	XP_011535153.1:p.Met594Thr
XM_011536851.2:c.1781T>C	XP_011535153.1:p.Met594Thr
XM_011536852.1:c.1430T>C	XP_011535154.1:p.Met477Thr
XM_011536853.1:c.1313T>C	XP_011535155.1:p.Met438Thr
XM_011536855.1:c.908T>C	XP_011535157.1:p.Met303Thr
XM_011536856.1:c.740T>C	XP_011535158.1:p.Met247Thr
XM_017021379.2:c.1781T>C	XP_016876868.1:p.Met594Thr
XM_017021380.1:c.941T>C	XP_016876869.1:p.Met314Thr
XM_024449636.1:c.740T>C	XP_024305404.1:p.Met247Thr
XR_001750382.2:n.2059T>C
XR_001750385.2:n.1998T>C
XR_001750386.2:n.2224T>C
XR_001750387.2:n.1887T>C
XR_245695.1:n.1733T>C
XR_245695.2:n.1732T>C
XR_943481.1:n.2060T>C
XR_943905.1:n.1143+1686A>G
XR_943905.3:n.486+1686A>G