Canonical Allele Identifier: CA349467840

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546340A>T , CM000664.2:g.178546340A>T	GRCh38
NC_000002.11:g.179411067A>T , CM000664.1:g.179411067A>T	GRCh37
NC_000002.10:g.179119313A>T	NCBI36
NG_011618.3:g.289463T>A , LRG_391:g.289463T>A
NG_051363.1:g.28514A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.94991T>A (TTN) MANE Select	NP_001254479.2:p.Leu31664Ter
ENST00000589042.5:c.94991T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu31664Ter
NM_001256850.1:c.90068T>A (TTN)	NP_001243779.1:p.Leu30023Ter
NM_003319.4:c.67796T>A (TTN)	NP_003310.4:p.Leu22599Ter
NM_133378.4:c.87287T>A (TTN)	NP_596869.4:p.Leu29096Ter
NM_133432.3:c.68171T>A (TTN)	NP_597676.3:p.Leu22724Ter
NM_133437.4:c.68372T>A (TTN)	NP_597681.4:p.Leu22791Ter
NR_038271.1:n.446+22704A>T (TTN-AS1)
NR_038272.1:n.2043+3979A>T (TTN-AS1)
ENST00000342175.10:c.68372T>A (TTN)	ENSP00000340554.6:p.Leu22791Ter
ENST00000342175.11:c.68372T>A (TTN)	ENSP00000340554.6:p.Leu22791Ter
ENST00000342992.10:c.87287T>A (TTN)	ENSP00000343764.6:p.Leu29096Ter
ENST00000342992.11:c.87287T>A (TTN)	ENSP00000343764.6:p.Leu29096Ter
ENST00000359218.10:c.68171T>A (TTN)	ENSP00000352154.5:p.Leu22724Ter
ENST00000359218.9:c.68171T>A (TTN)	ENSP00000352154.5:p.Leu22724Ter
ENST00000460472.6:c.67796T>A (TTN)	ENSP00000434586.1:p.Leu22599Ter
ENST00000591111.5:c.90068T>A (TTN)	ENSP00000465570.1:p.Leu30023Ter
ENST00000615779.4:c.90068T>A (TTN)	ENSP00000483597.1:p.Leu30023Ter
XM_011511729.1:c.94088T>A (TTN)	XP_011510031.1:p.Leu31363Ter
XM_011511730.1:c.67982T>A (TTN)	XP_011510032.1:p.Leu22661Ter
XM_011511731.1:c.67841T>A (TTN)	XP_011510033.1:p.Leu22614Ter
XM_017004819.1:c.93884T>A (TTN)	XP_016860308.1:p.Leu31295Ter
XM_017004820.1:c.89282T>A (TTN)	XP_016860309.1:p.Leu29761Ter
XM_017004821.1:c.89279T>A (TTN)	XP_016860310.1:p.Leu29760Ter
XM_017004822.1:c.86321T>A (TTN)	XP_016860311.1:p.Leu28774Ter
XM_017004823.1:c.67937T>A (TTN)	XP_016860312.1:p.Leu22646Ter
XM_024453094.1:c.89432T>A (TTN)	XP_024308862.1:p.Leu29811Ter
XM_024453095.1:c.89429T>A (TTN)	XP_024308863.1:p.Leu29810Ter
XM_024453096.1:c.88862T>A (TTN)	XP_024308864.1:p.Leu29621Ter
XM_024453097.1:c.86204T>A (TTN)	XP_024308865.1:p.Leu28735Ter
XM_024453098.1:c.86123T>A (TTN)	XP_024308866.1:p.Leu28708Ter
XM_024453099.1:c.67886T>A (TTN)	XP_024308867.1:p.Leu22629Ter
XM_024453100.1:c.57740T>A (TTN)	XP_024308868.1:p.Leu19247Ter