Canonical Allele Identifier: CA7200052

Gene: TMEM260

Linked Data

• dbSNP Id: rs778364627
• ExAC: 14:57088416 A / G
• gnomAD v2: 14-57088416-A-G
• gnomAD v3: 14-56621698-A-G
• gnomAD v4: 14-56621698-A-G
• MyVariant Identifiers: chr14:g.57088416A>G (hg19) ; chr14:g.56621698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56621698A>G , CM000676.2:g.56621698A>G	GRCh38
NC_000014.8:g.57088416A>G , CM000676.1:g.57088416A>G	GRCh37
NC_000014.7:g.56158169A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261556.11:c.1394A>G MANE Select	ENSP00000261556.6:p.Gln465Arg
ENST00000261556.10:c.1394A>G	ENSP00000261556.6:p.Gln465Arg
ENST00000538838.5:c.1226+2935A>G	ENSP00000441934.1:n.1226+2935A>G
ENST00000539559.6:c.*304A>G	ENSP00000442602.2:n.*304A>G
ENST00000555497.5:c.*700+2935A>G	ENSP00000452065.1:n.*700+2935A>G
ENST00000555905.5:c.440+2935A>G
ENST00000556422.5:c.758+2935A>G	ENSP00000450988.1:n.758+2935A>G
ENST00000556648.1:n.862+2935A>G
NM_017799.3:c.1394A>G	NP_060269.3:p.Gln465Arg
XM_005267771.1:c.353A>G	XP_005267828.1:p.Gln118Arg
XM_006720176.1:c.554A>G	XP_006720239.1:p.Gln185Arg
XM_006720178.1:c.353A>G	XP_006720241.1:p.Gln118Arg
XM_011536850.1:c.1226+2935A>G	XP_011535152.1:n.1226+2935A>G
XM_011536851.1:c.1394A>G	XP_011535153.1:p.Gln465Arg
XM_011536852.1:c.1043A>G	XP_011535154.1:p.Gln348Arg
XM_011536853.1:c.926A>G	XP_011535155.1:p.Gln309Arg
XM_011536855.1:c.521A>G	XP_011535157.1:p.Gln174Arg
XM_011536856.1:c.353A>G	XP_011535158.1:p.Gln118Arg
XR_245695.1:n.1350+2935A>G
XR_943481.1:n.1518A>G
XM_011536851.2:c.1394A>G	XP_011535153.1:p.Gln465Arg
XM_017021379.2:c.1394A>G	XP_016876868.1:p.Gln465Arg
XM_017021380.1:c.554A>G	XP_016876869.1:p.Gln185Arg
XM_024449636.1:c.353A>G	XP_024305404.1:p.Gln118Arg
XR_001750382.2:n.1517A>G
XR_001750384.2:n.1588A>G
XR_001750385.2:n.1611A>G
XR_001750386.2:n.1682A>G
XR_001750387.2:n.1349+2935A>G
XR_245695.2:n.1349+2935A>G
NM_017799.4:c.1394A>G MANE Select	NP_060269.3:p.Gln465Arg