Canonical Allele Identifier: CA211804297

Gene: TCTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95685567C>A , CM000672.2:g.95685567C>A	GRCh38
NC_000010.10:g.97445324C>A , CM000672.1:g.97445324C>A	GRCh37
NC_000010.9:g.97435314C>A	NCBI36
NG_032953.1:g.13577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371217.10:c.958G>T MANE Select	ENSP00000360261.5:p.Val320Leu
ENST00000614499.5:c.1012G>T	ENSP00000483364.2:p.Val338Leu
ENST00000679485.1:n.982G>T
ENST00000679566.1:c.853-943G>T	ENSP00000505964.1:n.853-943G>T
ENST00000679984.1:c.*213G>T	ENSP00000504998.1:n.*213G>T
ENST00000680144.1:c.888+928G>T	ENSP00000506398.1:n.888+928G>T
ENST00000680353.1:c.958G>T	ENSP00000505367.1:p.Val320Leu
ENST00000680697.1:n.543-943G>T
ENST00000680709.1:c.721G>T	ENSP00000505830.1:p.Val241Leu
ENST00000681127.1:n.1869G>T
ENST00000681739.1:n.1013G>T
ENST00000681928.1:c.*130+1477G>T	ENSP00000505552.1:n.*130+1477G>T
ENST00000265993.13:c.1012G>T	ENSP00000265993.9:p.Val338Leu
ENST00000371209.5:c.958G>T	ENSP00000360253.5:p.Val320Leu
ENST00000371217.9:c.958G>T	ENSP00000360261.5:p.Val320Leu
ENST00000430368.6:c.651+928G>T	ENSP00000387567.1:n.651+928G>T
ENST00000614499.4:c.958G>T	ENSP00000483364.1:p.Val320Leu
NM_001143973.1:c.651+928G>T	NP_001137445.1:n.651+928G>T
NM_015631.5:c.958G>T	NP_056446.4:p.Val320Leu
XM_005269690.1:c.942+928G>T	XP_005269747.1:n.942+928G>T
XM_011539627.1:c.1012G>T	XP_011537929.1:p.Val338Leu
XM_011539628.1:c.1012G>T	XP_011537930.1:p.Val338Leu
XM_005269690.2:c.942+928G>T	XP_005269747.1:n.942+928G>T
XM_011539627.2:c.1012G>T	XP_011537929.1:p.Val338Leu
XM_011539628.2:c.1012G>T	XP_011537930.1:p.Val338Leu
XM_024447935.1:c.942+928G>T	XP_024303703.1:n.942+928G>T
NM_015631.6:c.958G>T MANE Select	NP_056446.4:p.Val320Leu
NM_001143973.2:c.651+928G>T	NP_001137445.1:n.651+928G>T