Canonical Allele Identifier: CA211804304
Community Standard Title: NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
Gene: TCTN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95685585C>A , CM000672.2:g.95685585C>A GRCh38
NC_000010.10:g.97445342C>A , CM000672.1:g.97445342C>A GRCh37
NC_000010.9:g.97435332C>A NCBI36
NG_032953.1:g.13559G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015631.6:c.940G>T MANE Select NP_056446.4:p.Gly314Ter
ENST00000371217.10:c.940G>T MANE Select ENSP00000360261.5:p.Gly314Ter
NM_001143973.1:c.651+910G>T NP_001137445.1:n.651+910G>T
NM_001143973.2:c.651+910G>T NP_001137445.1:n.651+910G>T
NM_015631.5:c.940G>T NP_056446.4:p.Gly314Ter
ENST00000265993.13:c.994G>T ENSP00000265993.9:p.Gly332Ter
ENST00000371209.5:c.940G>T ENSP00000360253.5:p.Gly314Ter
ENST00000371217.9:c.940G>T ENSP00000360261.5:p.Gly314Ter
ENST00000430368.6:c.651+910G>T ENSP00000387567.1:n.651+910G>T
ENST00000614499.4:c.940G>T ENSP00000483364.1:p.Gly314Ter
ENST00000614499.5:c.994G>T ENSP00000483364.2:p.Gly332Ter
ENST00000679485.1:n.964G>T
ENST00000679566.1:c.853-961G>T ENSP00000505964.1:n.853-961G>T
ENST00000679984.1:c.*195G>T ENSP00000504998.1:n.*195G>T
ENST00000680144.1:c.888+910G>T ENSP00000506398.1:n.888+910G>T
ENST00000680353.1:c.940G>T ENSP00000505367.1:p.Gly314Ter
ENST00000680697.1:n.543-961G>T
ENST00000680709.1:c.703G>T ENSP00000505830.1:p.Gly235Ter
ENST00000681127.1:n.1851G>T
ENST00000681739.1:n.995G>T
ENST00000681928.1:c.*130+1459G>T ENSP00000505552.1:n.*130+1459G>T
XM_005269690.1:c.942+910G>T XP_005269747.1:n.942+910G>T
XM_005269690.2:c.942+910G>T XP_005269747.1:n.942+910G>T
XM_011539627.1:c.994G>T XP_011537929.1:p.Gly332Ter
XM_011539627.2:c.994G>T XP_011537929.1:p.Gly332Ter
XM_011539628.1:c.994G>T XP_011537930.1:p.Gly332Ter
XM_011539628.2:c.994G>T XP_011537930.1:p.Gly332Ter
XM_024447935.1:c.942+910G>T XP_024303703.1:n.942+910G>T