Canonical Allele Identifier: CA377706168

Gene: TCTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95685618G>A , CM000672.2:g.95685618G>A	GRCh38
NC_000010.10:g.97445375G>A , CM000672.1:g.97445375G>A	GRCh37
NC_000010.9:g.97435365G>A	NCBI36
NG_032953.1:g.13526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.907C>T MANE Select	ENSP00000360261.5:p.Leu303Phe
ENST00000614499.5:c.961C>T	ENSP00000483364.2:p.Leu321Phe
ENST00000679485.1:n.931C>T
ENST00000679566.1:c.853-994C>T	ENSP00000505964.1:n.853-994C>T
ENST00000679984.1:c.*162C>T	ENSP00000504998.1:n.*162C>T
ENST00000680144.1:c.888+877C>T	ENSP00000506398.1:n.888+877C>T
ENST00000680353.1:c.907C>T	ENSP00000505367.1:p.Leu303Phe
ENST00000680697.1:n.543-994C>T
ENST00000680709.1:c.670C>T	ENSP00000505830.1:p.Leu224Phe
ENST00000681127.1:n.1818C>T
ENST00000681739.1:n.962C>T
ENST00000681928.1:c.*130+1426C>T	ENSP00000505552.1:n.*130+1426C>T
ENST00000265993.13:c.961C>T	ENSP00000265993.9:p.Leu321Phe
ENST00000371209.5:c.907C>T	ENSP00000360253.5:p.Leu303Phe
ENST00000371217.9:c.907C>T	ENSP00000360261.5:p.Leu303Phe
ENST00000430368.6:c.651+877C>T	ENSP00000387567.1:n.651+877C>T
ENST00000614499.4:c.907C>T	ENSP00000483364.1:p.Leu303Phe
NM_001143973.1:c.651+877C>T	NP_001137445.1:n.651+877C>T
NM_015631.5:c.907C>T	NP_056446.4:p.Leu303Phe
XM_005269690.1:c.942+877C>T	XP_005269747.1:n.942+877C>T
XM_011539627.1:c.961C>T	XP_011537929.1:p.Leu321Phe
XM_011539628.1:c.961C>T	XP_011537930.1:p.Leu321Phe
XM_005269690.2:c.942+877C>T	XP_005269747.1:n.942+877C>T
XM_011539627.2:c.961C>T	XP_011537929.1:p.Leu321Phe
XM_011539628.2:c.961C>T	XP_011537930.1:p.Leu321Phe
XM_024447935.1:c.942+877C>T	XP_024303703.1:n.942+877C>T
NM_015631.6:c.907C>T MANE Select	NP_056446.4:p.Leu303Phe
NM_001143973.2:c.651+877C>T	NP_001137445.1:n.651+877C>T