Canonical Allele Identifier: CA349647549
Community Standard Title: NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631298C>A , CM000664.2:g.178631298C>A GRCh38
NC_000002.11:g.179496025C>A , CM000664.1:g.179496025C>A GRCh37
NC_000002.10:g.179204270C>A NCBI36
NG_011618.3:g.204505G>T , LRG_391:g.204505G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43750G>T MANE Select NP_001254479.2:p.Gly14584Ter
ENST00000589042.5:c.43750G>T MANE Select ENSP00000467141.1:p.Gly14584Ter
NM_001256850.1:c.38827G>T NP_001243779.1:p.Gly12943Ter
NM_003319.4:c.16555G>T NP_003310.4:p.Gly5519Ter
NM_133378.4:c.36046G>T NP_596869.4:p.Gly12016Ter
NM_133432.3:c.16930G>T NP_597676.3:p.Gly5644Ter
NM_133437.4:c.17131G>T NP_597681.4:p.Gly5711Ter
ENST00000342175.10:c.17131G>T ENSP00000340554.6:p.Gly5711Ter
ENST00000342175.11:c.17131G>T ENSP00000340554.6:p.Gly5711Ter
ENST00000342992.10:c.36046G>T ENSP00000343764.6:p.Gly12016Ter
ENST00000342992.11:c.36046G>T ENSP00000343764.6:p.Gly12016Ter
ENST00000359218.10:c.16930G>T ENSP00000352154.5:p.Gly5644Ter
ENST00000359218.9:c.16930G>T ENSP00000352154.5:p.Gly5644Ter
ENST00000460472.6:c.16555G>T ENSP00000434586.1:p.Gly5519Ter
ENST00000591111.5:c.38827G>T ENSP00000465570.1:p.Gly12943Ter
ENST00000615779.4:c.38827G>T ENSP00000483597.1:p.Gly12943Ter
XM_011511729.1:c.42847G>T XP_011510031.1:p.Gly14283Ter
XM_011511730.1:c.16741G>T XP_011510032.1:p.Gly5581Ter
XM_011511731.1:c.16600G>T XP_011510033.1:p.Gly5534Ter
XM_017004819.1:c.42643G>T XP_016860308.1:p.Gly14215Ter
XM_017004820.1:c.38041G>T XP_016860309.1:p.Gly12681Ter
XM_017004821.1:c.38038G>T XP_016860310.1:p.Gly12680Ter
XM_017004822.1:c.35080G>T XP_016860311.1:p.Gly11694Ter
XM_017004823.1:c.16696G>T XP_016860312.1:p.Gly5566Ter
XM_024453094.1:c.38191G>T XP_024308862.1:p.Gly12731Ter
XM_024453095.1:c.38188G>T XP_024308863.1:p.Gly12730Ter
XM_024453096.1:c.37621G>T XP_024308864.1:p.Gly12541Ter
XM_024453097.1:c.34963G>T XP_024308865.1:p.Gly11655Ter
XM_024453098.1:c.34882G>T XP_024308866.1:p.Gly11628Ter
XM_024453099.1:c.16645G>T XP_024308867.1:p.Gly5549Ter
XM_024453100.1:c.6499G>T XP_024308868.1:p.Gly2167Ter