Canonical Allele Identifier: CA5620793

Gene: TCTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95680493T>C , CM000672.2:g.95680493T>C	GRCh38
NC_000010.10:g.97440250T>C , CM000672.1:g.97440250T>C	GRCh37
NC_000010.9:g.97430240T>C	NCBI36
NG_032953.1:g.18651A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015631.6:c.1569A>G MANE Select	NP_056446.4:p.Leu523=
ENST00000371217.10:c.1569A>G MANE Select	ENSP00000360261.5:p.Leu523=
NM_001143973.1:c.1125A>G	NP_001137445.1:p.Leu375=
NM_001143973.2:c.1125A>G	NP_001137445.1:p.Leu375=
NM_015631.5:c.1569A>G	NP_056446.4:p.Leu523=
ENST00000265993.13:c.1623A>G	ENSP00000265993.9:p.Leu541=
ENST00000371217.9:c.1569A>G	ENSP00000360261.5:p.Leu523=
ENST00000430368.6:c.1125A>G	ENSP00000387567.1:p.Leu375=
ENST00000614499.4:c.1569A>G	ENSP00000483364.1:p.Leu523=
ENST00000614499.5:c.1608A>G	ENSP00000483364.2:p.Leu536=
ENST00000679485.1:n.1593A>G
ENST00000679984.1:c.*809A>G	ENSP00000504998.1:n.*809A>G
ENST00000680144.1:c.1473A>G	ENSP00000506398.1:p.Leu491=
ENST00000680353.1:c.1320A>G	ENSP00000505367.1:p.Leu440=
ENST00000680697.1:n.1764A>G
ENST00000680709.1:c.1317A>G	ENSP00000505830.1:p.Leu439=
ENST00000680781.1:c.115A>G
ENST00000681185.1:n.271A>G
ENST00000681739.1:n.1950A>G
ENST00000681928.1:c.*130+6551A>G	ENSP00000505552.1:n.*130+6551A>G
XM_005269690.1:c.1542A>G	XP_005269747.1:p.Leu514=
XM_005269690.2:c.1542A>G	XP_005269747.1:p.Leu514=
XM_011539627.1:c.1608A>G	XP_011537929.1:p.Leu536=
XM_011539627.2:c.1608A>G	XP_011537929.1:p.Leu536=
XM_011539628.1:c.1506+2158A>G	XP_011537930.1:n.1506+2158A>G
XM_011539628.2:c.1506+2158A>G	XP_011537930.1:n.1506+2158A>G
XM_024447935.1:c.1527A>G	XP_024303703.1:p.Leu509=