Canonical Allele Identifier: CA1985345

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531758C>T , CM000664.2:g.178531758C>T	GRCh38
NC_000002.11:g.179396485C>T , CM000664.1:g.179396485C>T	GRCh37
NC_000002.10:g.179104731C>T	NCBI36
NG_011618.3:g.304045G>A , LRG_391:g.304045G>A
NG_051363.1:g.13932C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.104857G>A (TTN) MANE Select	NP_001254479.2:p.Val34953Ile
ENST00000589042.5:c.104857G>A (TTN) MANE Select	ENSP00000467141.1:p.Val34953Ile
NM_001256850.1:c.99934G>A (TTN)	NP_001243779.1:p.Val33312Ile
NM_003319.4:c.77662G>A (TTN)	NP_003310.4:p.Val25888Ile
NM_133378.4:c.97153G>A (TTN)	NP_596869.4:p.Val32385Ile
NM_133432.3:c.78037G>A (TTN)	NP_597676.3:p.Val26013Ile
NM_133437.4:c.78238G>A (TTN)	NP_597681.4:p.Val26080Ile
NR_038271.1:n.446+8122C>T (TTN-AS1)
NR_038272.1:n.220-3974C>T (TTN-AS1)
ENST00000342175.10:c.78238G>A (TTN)	ENSP00000340554.6:p.Val26080Ile
ENST00000342175.11:c.78238G>A (TTN)	ENSP00000340554.6:p.Val26080Ile
ENST00000342992.10:c.97153G>A (TTN)	ENSP00000343764.6:p.Val32385Ile
ENST00000342992.11:c.97153G>A (TTN)	ENSP00000343764.6:p.Val32385Ile
ENST00000359218.10:c.78037G>A (TTN)	ENSP00000352154.5:p.Val26013Ile
ENST00000359218.9:c.78037G>A (TTN)	ENSP00000352154.5:p.Val26013Ile
ENST00000460472.6:c.77662G>A (TTN)	ENSP00000434586.1:p.Val25888Ile
ENST00000591111.5:c.99934G>A (TTN)	ENSP00000465570.1:p.Val33312Ile
ENST00000615779.4:c.99934G>A (TTN)	ENSP00000483597.1:p.Val33312Ile
XM_011511729.1:c.103954G>A (TTN)	XP_011510031.1:p.Val34652Ile
XM_011511730.1:c.77848G>A (TTN)	XP_011510032.1:p.Val25950Ile
XM_011511731.1:c.77707G>A (TTN)	XP_011510033.1:p.Val25903Ile
XM_017004819.1:c.103750G>A (TTN)	XP_016860308.1:p.Val34584Ile
XM_017004820.1:c.99148G>A (TTN)	XP_016860309.1:p.Val33050Ile
XM_017004821.1:c.99145G>A (TTN)	XP_016860310.1:p.Val33049Ile
XM_017004822.1:c.96187G>A (TTN)	XP_016860311.1:p.Val32063Ile
XM_017004823.1:c.77803G>A (TTN)	XP_016860312.1:p.Val25935Ile
XM_024453094.1:c.99298G>A (TTN)	XP_024308862.1:p.Val33100Ile
XM_024453095.1:c.99295G>A (TTN)	XP_024308863.1:p.Val33099Ile
XM_024453096.1:c.98728G>A (TTN)	XP_024308864.1:p.Val32910Ile
XM_024453097.1:c.96070G>A (TTN)	XP_024308865.1:p.Val32024Ile
XM_024453098.1:c.95989G>A (TTN)	XP_024308866.1:p.Val31997Ile
XM_024453099.1:c.77752G>A (TTN)	XP_024308867.1:p.Val25918Ile
XM_024453100.1:c.67606G>A (TTN)	XP_024308868.1:p.Val22536Ile