Canonical Allele Identifier: CA61007614
Community Standard Title: NM_001267550.2(TTN):c.41322T>G (p.Val13774=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636405A>C , CM000664.2:g.178636405A>C GRCh38
NC_000002.11:g.179501132A>C , CM000664.1:g.179501132A>C GRCh37
NC_000002.10:g.179209377A>C NCBI36
NG_011618.3:g.199398T>G , LRG_391:g.199398T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41322T>G MANE Select NP_001254479.2:p.Val13774=
ENST00000589042.5:c.41322T>G MANE Select ENSP00000467141.1:p.Val13774=
NM_001256850.1:c.36399T>G NP_001243779.1:p.Val12133=
NM_003319.4:c.14127T>G NP_003310.4:p.Val4709=
NM_133378.4:c.33618T>G NP_596869.4:p.Val11206=
NM_133432.3:c.14502T>G NP_597676.3:p.Val4834=
NM_133437.4:c.14703T>G NP_597681.4:p.Val4901=
ENST00000342175.10:c.14703T>G ENSP00000340554.6:p.Val4901=
ENST00000342175.11:c.14703T>G ENSP00000340554.6:p.Val4901=
ENST00000342992.10:c.33618T>G ENSP00000343764.6:p.Val11206=
ENST00000342992.11:c.33618T>G ENSP00000343764.6:p.Val11206=
ENST00000359218.10:c.14502T>G ENSP00000352154.5:p.Val4834=
ENST00000359218.9:c.14502T>G ENSP00000352154.5:p.Val4834=
ENST00000460472.6:c.14127T>G ENSP00000434586.1:p.Val4709=
ENST00000591111.5:c.36399T>G ENSP00000465570.1:p.Val12133=
ENST00000615779.4:c.36399T>G ENSP00000483597.1:p.Val12133=
XM_011511729.1:c.40419T>G XP_011510031.1:p.Val13473=
XM_011511730.1:c.14313T>G XP_011510032.1:p.Val4771=
XM_011511731.1:c.14172T>G XP_011510033.1:p.Val4724=
XM_017004819.1:c.40215T>G XP_016860308.1:p.Val13405=
XM_017004820.1:c.35613T>G XP_016860309.1:p.Val11871=
XM_017004821.1:c.35610T>G XP_016860310.1:p.Val11870=
XM_017004822.1:c.32652T>G XP_016860311.1:p.Val10884=
XM_017004823.1:c.14268T>G XP_016860312.1:p.Val4756=
XM_024453094.1:c.35763T>G XP_024308862.1:p.Val11921=
XM_024453095.1:c.35760T>G XP_024308863.1:p.Val11920=
XM_024453096.1:c.35193T>G XP_024308864.1:p.Val11731=
XM_024453097.1:c.32535T>G XP_024308865.1:p.Val10845=
XM_024453098.1:c.32454T>G XP_024308866.1:p.Val10818=
XM_024453099.1:c.14217T>G XP_024308867.1:p.Val4739=
XM_024453100.1:c.4071T>G XP_024308868.1:p.Val1357=