Canonical Allele Identifier: CA210256

Gene: TCTN3

Linked Data

• ClinVar Variation Id: 217703
• ClinVar RCV Id: RCV000201547 ; RCV000796275 ; RCV003227713
• dbSNP Id: rs745688122
• gnomAD v2: 10-97453654-C-T
• gnomAD v3: 10-95693897-C-T
• gnomAD v4: 10-95693897-C-T
• MyVariant Identifiers: chr10:g.97453654C>T (hg19) ; chr10:g.95693897C>T (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95693897C>T , CM000672.2:g.95693897C>T	GRCh38
NC_000010.10:g.97453654C>T , CM000672.1:g.97453654C>T	GRCh37
NC_000010.9:g.97443644C>T	NCBI36
NG_032953.1:g.5247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.3G>A MANE Select	ENSP00000360261.5:p.Met1Ile
ENST00000614499.5:c.57G>A	ENSP00000483364.2:p.Met19Ile
ENST00000679485.1:n.27G>A
ENST00000679566.1:c.3G>A	ENSP00000505964.1:p.Met1Ile
ENST00000679984.1:c.3G>A	ENSP00000504998.1:p.Met1Ile
ENST00000680144.1:c.3G>A	ENSP00000506398.1:p.Met1Ile
ENST00000680353.1:c.3G>A	ENSP00000505367.1:p.Met1Ile
ENST00000680697.1:n.46G>A
ENST00000680709.1:c.3G>A	ENSP00000505830.1:p.Met1Ile
ENST00000681127.1:n.56G>A
ENST00000681739.1:n.58G>A
ENST00000681928.1:c.3G>A	ENSP00000505552.1:p.Met1Ile
ENST00000265993.13:c.57G>A	ENSP00000265993.9:p.Met19Ile
ENST00000371209.5:c.3G>A	ENSP00000360253.5:p.Met1Ile
ENST00000371217.9:c.3G>A	ENSP00000360261.5:p.Met1Ile
ENST00000430368.6:c.3G>A	ENSP00000387567.1:p.Met1Ile
ENST00000478245.1:n.5G>A
ENST00000497399.1:n.59G>A
ENST00000614499.4:c.3G>A	ENSP00000483364.1:p.Met1Ile
NM_001143973.1:c.3G>A	NP_001137445.1:p.Met1Ile
NM_015631.5:c.3G>A	NP_056446.4:p.Met1Ile
XM_005269690.1:c.57G>A	XP_005269747.1:p.Met19Ile
XM_011539627.1:c.57G>A	XP_011537929.1:p.Met19Ile
XM_011539628.1:c.57G>A	XP_011537930.1:p.Met19Ile
XM_005269690.2:c.57G>A	XP_005269747.1:p.Met19Ile
XM_011539627.2:c.57G>A	XP_011537929.1:p.Met19Ile
XM_011539628.2:c.57G>A	XP_011537930.1:p.Met19Ile
XM_024447935.1:c.57G>A	XP_024303703.1:p.Met19Ile
NM_015631.6:c.3G>A MANE Select	NP_056446.4:p.Met1Ile
NM_001143973.2:c.3G>A	NP_001137445.1:p.Met1Ile