Canonical Allele Identifier: CA377708830

Gene: TCTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95687651A>G , CM000672.2:g.95687651A>G	GRCh38
NC_000010.10:g.97447408A>G , CM000672.1:g.97447408A>G	GRCh37
NC_000010.9:g.97437398A>G	NCBI36
NG_032953.1:g.11493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.568T>C MANE Select	ENSP00000360261.5:p.Phe190Leu
ENST00000614499.5:c.622T>C	ENSP00000483364.2:p.Phe208Leu
ENST00000679485.1:n.592T>C
ENST00000679566.1:c.568T>C	ENSP00000505964.1:p.Phe190Leu
ENST00000679984.1:c.568T>C	ENSP00000504998.1:p.Phe190Leu
ENST00000680144.1:c.568T>C	ENSP00000506398.1:p.Phe190Leu
ENST00000680353.1:c.568T>C	ENSP00000505367.1:p.Phe190Leu
ENST00000680697.1:n.543-3027T>C
ENST00000680709.1:c.500-492T>C	ENSP00000505830.1:n.500-492T>C
ENST00000681127.1:n.621T>C
ENST00000681739.1:n.623T>C
ENST00000681928.1:c.500-296T>C	ENSP00000505552.1:n.500-296T>C
ENST00000265993.13:c.622T>C	ENSP00000265993.9:p.Phe208Leu
ENST00000371209.5:c.568T>C	ENSP00000360253.5:p.Phe190Leu
ENST00000371217.9:c.568T>C	ENSP00000360261.5:p.Phe190Leu
ENST00000430368.6:c.500-492T>C	ENSP00000387567.1:n.500-492T>C
ENST00000497399.1:n.723-492T>C
ENST00000614499.4:c.568T>C	ENSP00000483364.1:p.Phe190Leu
NM_001143973.1:c.500-492T>C	NP_001137445.1:n.500-492T>C
NM_015631.5:c.568T>C	NP_056446.4:p.Phe190Leu
XM_005269690.1:c.622T>C	XP_005269747.1:p.Phe208Leu
XM_011539627.1:c.622T>C	XP_011537929.1:p.Phe208Leu
XM_011539628.1:c.622T>C	XP_011537930.1:p.Phe208Leu
XM_005269690.2:c.622T>C	XP_005269747.1:p.Phe208Leu
XM_011539627.2:c.622T>C	XP_011537929.1:p.Phe208Leu
XM_011539628.2:c.622T>C	XP_011537930.1:p.Phe208Leu
XM_024447935.1:c.622T>C	XP_024303703.1:p.Phe208Leu
NM_015631.6:c.568T>C MANE Select	NP_056446.4:p.Phe190Leu
NM_001143973.2:c.500-492T>C	NP_001137445.1:n.500-492T>C