Canonical Allele Identifier: CA211804788

Gene: TCTN3

Linked Data

• ClinVar Variation Id: 1964780
• ClinVar RCV Id: RCV002726319
• dbSNP Id: rs764091969
• gnomAD v4: 10-95686506-G-T
• MyVariant Identifiers: chr10:g.97446263G>T (hg19) ; chr10:g.95686506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95686506G>T , CM000672.2:g.95686506G>T	GRCh38
NC_000010.10:g.97446263G>T , CM000672.1:g.97446263G>T	GRCh37
NC_000010.9:g.97436253G>T	NCBI36
NG_032953.1:g.12638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.877C>A MANE Select	ENSP00000360261.5:p.Gln293Lys
ENST00000614499.5:c.931C>A	ENSP00000483364.2:p.Gln311Lys
ENST00000679485.1:n.901C>A
ENST00000679566.1:c.852+538C>A	ENSP00000505964.1:n.852+538C>A
ENST00000679984.1:c.*132C>A	ENSP00000504998.1:n.*132C>A
ENST00000680144.1:c.877C>A	ENSP00000506398.1:p.Gln293Lys
ENST00000680353.1:c.877C>A	ENSP00000505367.1:p.Gln293Lys
ENST00000680697.1:n.543-1882C>A
ENST00000680709.1:c.640C>A	ENSP00000505830.1:p.Gln214Lys
ENST00000681127.1:n.930C>A
ENST00000681739.1:n.932C>A
ENST00000681928.1:c.*130+538C>A	ENSP00000505552.1:n.*130+538C>A
ENST00000265993.13:c.931C>A	ENSP00000265993.9:p.Gln311Lys
ENST00000371209.5:c.877C>A	ENSP00000360253.5:p.Gln293Lys
ENST00000371217.9:c.877C>A	ENSP00000360261.5:p.Gln293Lys
ENST00000430368.6:c.640C>A	ENSP00000387567.1:p.Gln214Lys
ENST00000614499.4:c.877C>A	ENSP00000483364.1:p.Gln293Lys
NM_001143973.1:c.640C>A	NP_001137445.1:p.Gln214Lys
NM_015631.5:c.877C>A	NP_056446.4:p.Gln293Lys
XM_005269690.1:c.931C>A	XP_005269747.1:p.Gln311Lys
XM_011539627.1:c.931C>A	XP_011537929.1:p.Gln311Lys
XM_011539628.1:c.931C>A	XP_011537930.1:p.Gln311Lys
XM_005269690.2:c.931C>A	XP_005269747.1:p.Gln311Lys
XM_011539627.2:c.931C>A	XP_011537929.1:p.Gln311Lys
XM_011539628.2:c.931C>A	XP_011537930.1:p.Gln311Lys
XM_024447935.1:c.931C>A	XP_024303703.1:p.Gln311Lys
NM_015631.6:c.877C>A MANE Select	NP_056446.4:p.Gln293Lys
NM_001143973.2:c.640C>A	NP_001137445.1:p.Gln214Lys