Canonical Allele Identifier: CA5620975
Community Standard Title: NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)
Gene: TCTN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95684534C>T , CM000672.2:g.95684534C>T GRCh38
NC_000010.10:g.97444291C>T , CM000672.1:g.97444291C>T GRCh37
NC_000010.9:g.97434281C>T NCBI36
NG_032953.1:g.14610G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015631.6:c.1060G>A MANE Select NP_056446.4:p.Ala354Thr
ENST00000371217.10:c.1060G>A MANE Select ENSP00000360261.5:p.Ala354Thr
NM_001143973.1:c.652-905G>A NP_001137445.1:n.652-905G>A
NM_001143973.2:c.652-905G>A NP_001137445.1:n.652-905G>A
NM_015631.5:c.1060G>A NP_056446.4:p.Ala354Thr
ENST00000265993.13:c.1114G>A ENSP00000265993.9:p.Ala372Thr
ENST00000371209.5:c.1060G>A ENSP00000360253.5:p.Ala354Thr
ENST00000371217.9:c.1060G>A ENSP00000360261.5:p.Ala354Thr
ENST00000430368.6:c.652-905G>A ENSP00000387567.1:n.652-905G>A
ENST00000614499.4:c.1060G>A ENSP00000483364.1:p.Ala354Thr
ENST00000614499.5:c.1114G>A ENSP00000483364.2:p.Ala372Thr
ENST00000679485.1:n.1084G>A
ENST00000679566.1:c.943G>A
ENST00000679984.1:c.*315G>A ENSP00000504998.1:n.*315G>A
ENST00000680144.1:c.979G>A ENSP00000506398.1:p.Ala327Thr
ENST00000680353.1:c.1060G>A ENSP00000505367.1:p.Ala354Thr
ENST00000680697.1:n.633G>A
ENST00000680709.1:c.823G>A ENSP00000505830.1:p.Ala275Thr
ENST00000681127.1:n.2902G>A
ENST00000681739.1:n.1115G>A
ENST00000681928.1:c.*130+2510G>A ENSP00000505552.1:n.*130+2510G>A
XM_005269690.1:c.1033G>A XP_005269747.1:p.Ala345Thr
XM_005269690.2:c.1033G>A XP_005269747.1:p.Ala345Thr
XM_011539627.1:c.1114G>A XP_011537929.1:p.Ala372Thr
XM_011539627.2:c.1114G>A XP_011537929.1:p.Ala372Thr
XM_011539628.1:c.1114G>A XP_011537930.1:p.Ala372Thr
XM_011539628.2:c.1114G>A XP_011537930.1:p.Ala372Thr
XM_024447935.1:c.1033G>A XP_024303703.1:p.Ala345Thr