Canonical Allele Identifier: CA130052

Gene: TCTN3

Linked Data

• ClinVar Variation Id: 37061
• ClinVar RCV Id: RCV000030715
• dbSNP Id: rs793888508
• gnomAD v4: 10-95685585-C-T
• MyVariant Identifiers: chr10:g.97445342C>T (hg19) ; chr10:g.95685585C>T (hg38)
• PubMed: PMID:22883145

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95685585C>T , CM000672.2:g.95685585C>T	GRCh38
NC_000010.10:g.97445342C>T , CM000672.1:g.97445342C>T	GRCh37
NC_000010.9:g.97435332C>T	NCBI36
NG_032953.1:g.13559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.940G>A MANE Select	ENSP00000360261.5:p.Gly314Arg
ENST00000614499.5:c.994G>A	ENSP00000483364.2:p.Gly332Arg
ENST00000679485.1:n.964G>A
ENST00000679566.1:c.853-961G>A	ENSP00000505964.1:n.853-961G>A
ENST00000679984.1:c.*195G>A	ENSP00000504998.1:n.*195G>A
ENST00000680144.1:c.888+910G>A	ENSP00000506398.1:n.888+910G>A
ENST00000680353.1:c.940G>A	ENSP00000505367.1:p.Gly314Arg
ENST00000680697.1:n.543-961G>A
ENST00000680709.1:c.703G>A	ENSP00000505830.1:p.Gly235Arg
ENST00000681127.1:n.1851G>A
ENST00000681739.1:n.995G>A
ENST00000681928.1:c.*130+1459G>A	ENSP00000505552.1:n.*130+1459G>A
ENST00000265993.13:c.994G>A	ENSP00000265993.9:p.Gly332Arg
ENST00000371209.5:c.940G>A	ENSP00000360253.5:p.Gly314Arg
ENST00000371217.9:c.940G>A	ENSP00000360261.5:p.Gly314Arg
ENST00000430368.6:c.651+910G>A	ENSP00000387567.1:n.651+910G>A
ENST00000614499.4:c.940G>A	ENSP00000483364.1:p.Gly314Arg
NM_001143973.1:c.651+910G>A	NP_001137445.1:n.651+910G>A
NM_015631.5:c.940G>A	NP_056446.4:p.Gly314Arg
XM_005269690.1:c.942+910G>A	XP_005269747.1:n.942+910G>A
XM_011539627.1:c.994G>A	XP_011537929.1:p.Gly332Arg
XM_011539628.1:c.994G>A	XP_011537930.1:p.Gly332Arg
XM_005269690.2:c.942+910G>A	XP_005269747.1:n.942+910G>A
XM_011539627.2:c.994G>A	XP_011537929.1:p.Gly332Arg
XM_011539628.2:c.994G>A	XP_011537930.1:p.Gly332Arg
XM_024447935.1:c.942+910G>A	XP_024303703.1:n.942+910G>A
NM_015631.6:c.940G>A MANE Select	NP_056446.4:p.Gly314Arg
NM_001143973.2:c.651+910G>A	NP_001137445.1:n.651+910G>A