Canonical Allele Identifier: CA389833398

Gene: TMEM260

Linked Data

• gnomAD v3: 14-56621701-A-T
• gnomAD v4: 14-56621701-A-T
• MyVariant Identifiers: chr14:g.57088419A>T (hg19) ; chr14:g.56621701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56621701A>T , CM000676.2:g.56621701A>T	GRCh38
NC_000014.8:g.57088419A>T , CM000676.1:g.57088419A>T	GRCh37
NC_000014.7:g.56158172A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261556.11:c.1397A>T MANE Select	ENSP00000261556.6:p.Glu466Val
ENST00000261556.10:c.1397A>T	ENSP00000261556.6:p.Glu466Val
ENST00000538838.5:c.1226+2938A>T	ENSP00000441934.1:n.1226+2938A>T
ENST00000539559.6:c.*307A>T	ENSP00000442602.2:n.*307A>T
ENST00000555497.5:c.*700+2938A>T	ENSP00000452065.1:n.*700+2938A>T
ENST00000555905.5:c.440+2938A>T
ENST00000556422.5:c.758+2938A>T	ENSP00000450988.1:n.758+2938A>T
ENST00000556648.1:n.862+2938A>T
NM_017799.3:c.1397A>T	NP_060269.3:p.Glu466Val
XM_005267771.1:c.356A>T	XP_005267828.1:p.Glu119Val
XM_006720176.1:c.557A>T	XP_006720239.1:p.Glu186Val
XM_006720178.1:c.356A>T	XP_006720241.1:p.Glu119Val
XM_011536850.1:c.1226+2938A>T	XP_011535152.1:n.1226+2938A>T
XM_011536851.1:c.1397A>T	XP_011535153.1:p.Glu466Val
XM_011536852.1:c.1046A>T	XP_011535154.1:p.Glu349Val
XM_011536853.1:c.929A>T	XP_011535155.1:p.Glu310Val
XM_011536855.1:c.524A>T	XP_011535157.1:p.Glu175Val
XM_011536856.1:c.356A>T	XP_011535158.1:p.Glu119Val
XR_245695.1:n.1350+2938A>T
XR_943481.1:n.1521A>T
XM_011536851.2:c.1397A>T	XP_011535153.1:p.Glu466Val
XM_017021379.2:c.1397A>T	XP_016876868.1:p.Glu466Val
XM_017021380.1:c.557A>T	XP_016876869.1:p.Glu186Val
XM_024449636.1:c.356A>T	XP_024305404.1:p.Glu119Val
XR_001750382.2:n.1520A>T
XR_001750384.2:n.1591A>T
XR_001750385.2:n.1614A>T
XR_001750386.2:n.1685A>T
XR_001750387.2:n.1349+2938A>T
XR_245695.2:n.1349+2938A>T
NM_017799.4:c.1397A>T MANE Select	NP_060269.3:p.Glu466Val