Canonical Allele Identifier: CA430277948

Gene: TTN

Genomic Alleles

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

Transcript Alleles

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