Canonical Allele Identifier: CA5620803

Gene: TCTN3

Linked Data

• ClinVar Variation Id: 423293
• ClinVar RCV Id: RCV000481457 ; RCV001856873 ; RCV004535529
• dbSNP Id: rs755942179
• ExAC: 10:97440282 G / A
• gnomAD v2: 10-97440282-G-A
• gnomAD v3: 10-95680525-G-A
• gnomAD v4: 10-95680525-G-A
• MyVariant Identifiers: chr10:g.97440282G>A (hg19) ; chr10:g.95680525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95680525G>A , CM000672.2:g.95680525G>A	GRCh38
NC_000010.10:g.97440282G>A , CM000672.1:g.97440282G>A	GRCh37
NC_000010.9:g.97430272G>A	NCBI36
NG_032953.1:g.18619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.1537C>T MANE Select	ENSP00000360261.5:p.Pro513Ser
ENST00000614499.5:c.1576C>T	ENSP00000483364.2:p.Pro526Ser
ENST00000679485.1:n.1561C>T
ENST00000679984.1:c.*777C>T	ENSP00000504998.1:n.*777C>T
ENST00000680144.1:c.1441C>T	ENSP00000506398.1:p.Pro481Ser
ENST00000680353.1:c.1288C>T	ENSP00000505367.1:p.Pro430Ser
ENST00000680697.1:n.1732C>T
ENST00000680709.1:c.1285C>T	ENSP00000505830.1:p.Pro429Ser
ENST00000680781.1:c.83C>T
ENST00000681185.1:n.239C>T
ENST00000681739.1:n.1918C>T
ENST00000681928.1:c.*130+6519C>T	ENSP00000505552.1:n.*130+6519C>T
ENST00000265993.13:c.1591C>T	ENSP00000265993.9:p.Pro531Ser
ENST00000371217.9:c.1537C>T	ENSP00000360261.5:p.Pro513Ser
ENST00000430368.6:c.1093C>T	ENSP00000387567.1:p.Pro365Ser
ENST00000614499.4:c.1537C>T	ENSP00000483364.1:p.Pro513Ser
NM_001143973.1:c.1093C>T	NP_001137445.1:p.Pro365Ser
NM_015631.5:c.1537C>T	NP_056446.4:p.Pro513Ser
XM_005269690.1:c.1510C>T	XP_005269747.1:p.Pro504Ser
XM_011539627.1:c.1576C>T	XP_011537929.1:p.Pro526Ser
XM_011539628.1:c.1506+2126C>T	XP_011537930.1:n.1506+2126C>T
XM_005269690.2:c.1510C>T	XP_005269747.1:p.Pro504Ser
XM_011539627.2:c.1576C>T	XP_011537929.1:p.Pro526Ser
XM_011539628.2:c.1506+2126C>T	XP_011537930.1:n.1506+2126C>T
XM_024447935.1:c.1495C>T	XP_024303703.1:p.Pro499Ser
NM_015631.6:c.1537C>T MANE Select	NP_056446.4:p.Pro513Ser
NM_001143973.2:c.1093C>T	NP_001137445.1:p.Pro365Ser