Canonical Allele Identifier: CA389833394

Gene: TMEM260

Linked Data

• gnomAD v4: 14-56621700-G-A
• MyVariant Identifiers: chr14:g.57088418G>A (hg19) ; chr14:g.56621700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56621700G>A , CM000676.2:g.56621700G>A	GRCh38
NC_000014.8:g.57088418G>A , CM000676.1:g.57088418G>A	GRCh37
NC_000014.7:g.56158171G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261556.11:c.1396G>A MANE Select	ENSP00000261556.6:p.Glu466Lys
ENST00000261556.10:c.1396G>A	ENSP00000261556.6:p.Glu466Lys
ENST00000538838.5:c.1226+2937G>A	ENSP00000441934.1:n.1226+2937G>A
ENST00000539559.6:c.*306G>A	ENSP00000442602.2:n.*306G>A
ENST00000555497.5:c.*700+2937G>A	ENSP00000452065.1:n.*700+2937G>A
ENST00000555905.5:c.440+2937G>A
ENST00000556422.5:c.758+2937G>A	ENSP00000450988.1:n.758+2937G>A
ENST00000556648.1:n.862+2937G>A
NM_017799.3:c.1396G>A	NP_060269.3:p.Glu466Lys
XM_005267771.1:c.355G>A	XP_005267828.1:p.Glu119Lys
XM_006720176.1:c.556G>A	XP_006720239.1:p.Glu186Lys
XM_006720178.1:c.355G>A	XP_006720241.1:p.Glu119Lys
XM_011536850.1:c.1226+2937G>A	XP_011535152.1:n.1226+2937G>A
XM_011536851.1:c.1396G>A	XP_011535153.1:p.Glu466Lys
XM_011536852.1:c.1045G>A	XP_011535154.1:p.Glu349Lys
XM_011536853.1:c.928G>A	XP_011535155.1:p.Glu310Lys
XM_011536855.1:c.523G>A	XP_011535157.1:p.Glu175Lys
XM_011536856.1:c.355G>A	XP_011535158.1:p.Glu119Lys
XR_245695.1:n.1350+2937G>A
XR_943481.1:n.1520G>A
XM_011536851.2:c.1396G>A	XP_011535153.1:p.Glu466Lys
XM_017021379.2:c.1396G>A	XP_016876868.1:p.Glu466Lys
XM_017021380.1:c.556G>A	XP_016876869.1:p.Glu186Lys
XM_024449636.1:c.355G>A	XP_024305404.1:p.Glu119Lys
XR_001750382.2:n.1519G>A
XR_001750384.2:n.1590G>A
XR_001750385.2:n.1613G>A
XR_001750386.2:n.1684G>A
XR_001750387.2:n.1349+2937G>A
XR_245695.2:n.1349+2937G>A
NM_017799.4:c.1396G>A MANE Select	NP_060269.3:p.Glu466Lys