Canonical Allele Identifier: CA7200054

Gene: TMEM260

Linked Data

• dbSNP Id: rs745450863
• ExAC: 14:57088420 A / C
• gnomAD v2: 14-57088420-A-C
• gnomAD v4: 14-56621702-A-C
• MyVariant Identifiers: chr14:g.57088420A>C (hg19) ; chr14:g.56621702A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56621702A>C , CM000676.2:g.56621702A>C	GRCh38
NC_000014.8:g.57088420A>C , CM000676.1:g.57088420A>C	GRCh37
NC_000014.7:g.56158173A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261556.11:c.1398A>C MANE Select	ENSP00000261556.6:p.Glu466Asp
ENST00000261556.10:c.1398A>C	ENSP00000261556.6:p.Glu466Asp
ENST00000538838.5:c.1226+2939A>C	ENSP00000441934.1:n.1226+2939A>C
ENST00000539559.6:c.*308A>C	ENSP00000442602.2:n.*308A>C
ENST00000555497.5:c.*700+2939A>C	ENSP00000452065.1:n.*700+2939A>C
ENST00000555905.5:c.440+2939A>C
ENST00000556422.5:c.758+2939A>C	ENSP00000450988.1:n.758+2939A>C
ENST00000556648.1:n.862+2939A>C
NM_017799.3:c.1398A>C	NP_060269.3:p.Glu466Asp
XM_005267771.1:c.357A>C	XP_005267828.1:p.Glu119Asp
XM_006720176.1:c.558A>C	XP_006720239.1:p.Glu186Asp
XM_006720178.1:c.357A>C	XP_006720241.1:p.Glu119Asp
XM_011536850.1:c.1226+2939A>C	XP_011535152.1:n.1226+2939A>C
XM_011536851.1:c.1398A>C	XP_011535153.1:p.Glu466Asp
XM_011536852.1:c.1047A>C	XP_011535154.1:p.Glu349Asp
XM_011536853.1:c.930A>C	XP_011535155.1:p.Glu310Asp
XM_011536855.1:c.525A>C	XP_011535157.1:p.Glu175Asp
XM_011536856.1:c.357A>C	XP_011535158.1:p.Glu119Asp
XR_245695.1:n.1350+2939A>C
XR_943481.1:n.1522A>C
XM_011536851.2:c.1398A>C	XP_011535153.1:p.Glu466Asp
XM_017021379.2:c.1398A>C	XP_016876868.1:p.Glu466Asp
XM_017021380.1:c.558A>C	XP_016876869.1:p.Glu186Asp
XM_024449636.1:c.357A>C	XP_024305404.1:p.Glu119Asp
XR_001750382.2:n.1521A>C
XR_001750384.2:n.1592A>C
XR_001750385.2:n.1615A>C
XR_001750386.2:n.1686A>C
XR_001750387.2:n.1349+2939A>C
XR_245695.2:n.1349+2939A>C
NM_017799.4:c.1398A>C MANE Select	NP_060269.3:p.Glu466Asp