Canonical Allele Identifier: CA349618268

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482793G>A (hg19) ; chr2:g.178618066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618066G>A , CM000664.2:g.178618066G>A	GRCh38
NC_000002.11:g.179482793G>A , CM000664.1:g.179482793G>A	GRCh37
NC_000002.10:g.179191038G>A	NCBI36
NG_011618.3:g.217737C>T , LRG_391:g.217737C>T
NG_051363.1:g.100240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39581C>T (TTN)	ENSP00000343764.6:p.Pro13194Leu
ENST00000342175.11:c.20666C>T (TTN)	ENSP00000340554.6:p.Pro6889Leu
ENST00000359218.10:c.20465C>T (TTN)	ENSP00000352154.5:p.Pro6822Leu
ENST00000342175.10:c.20666C>T (TTN)	ENSP00000340554.6:p.Pro6889Leu
ENST00000342992.10:c.39581C>T (TTN)	ENSP00000343764.6:p.Pro13194Leu
ENST00000359218.9:c.20465C>T (TTN)	ENSP00000352154.5:p.Pro6822Leu
ENST00000460472.6:c.20090C>T (TTN)	ENSP00000434586.1:p.Pro6697Leu
ENST00000589042.5:c.47285C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro15762Leu
ENST00000591111.5:c.42362C>T (TTN)	ENSP00000465570.1:p.Pro14121Leu
ENST00000615779.4:c.42362C>T (TTN)	ENSP00000483597.1:p.Pro14121Leu
NM_001256850.1:c.42362C>T (TTN)	NP_001243779.1:p.Pro14121Leu
NM_001267550.2:c.47285C>T (TTN) MANE Select	NP_001254479.2:p.Pro15762Leu
NM_003319.4:c.20090C>T (TTN)	NP_003310.4:p.Pro6697Leu
NM_133378.4:c.39581C>T (TTN)	NP_596869.4:p.Pro13194Leu
NM_133432.3:c.20465C>T (TTN)	NP_597676.3:p.Pro6822Leu
NM_133437.4:c.20666C>T (TTN)	NP_597681.4:p.Pro6889Leu
NR_038271.1:n.1605-1687G>A (TTN-AS1)
XM_011511729.1:c.46382C>T (TTN)	XP_011510031.1:p.Pro15461Leu
XM_011511730.1:c.20276C>T (TTN)	XP_011510032.1:p.Pro6759Leu
XM_011511731.1:c.20135C>T (TTN)	XP_011510033.1:p.Pro6712Leu
XM_017004819.1:c.46178C>T (TTN)	XP_016860308.1:p.Pro15393Leu
XM_017004820.1:c.41576C>T (TTN)	XP_016860309.1:p.Pro13859Leu
XM_017004821.1:c.41573C>T (TTN)	XP_016860310.1:p.Pro13858Leu
XM_017004822.1:c.38615C>T (TTN)	XP_016860311.1:p.Pro12872Leu
XM_017004823.1:c.20231C>T (TTN)	XP_016860312.1:p.Pro6744Leu
XM_024453094.1:c.41726C>T (TTN)	XP_024308862.1:p.Pro13909Leu
XM_024453095.1:c.41723C>T (TTN)	XP_024308863.1:p.Pro13908Leu
XM_024453096.1:c.41156C>T (TTN)	XP_024308864.1:p.Pro13719Leu
XM_024453097.1:c.38498C>T (TTN)	XP_024308865.1:p.Pro12833Leu
XM_024453098.1:c.38417C>T (TTN)	XP_024308866.1:p.Pro12806Leu
XM_024453099.1:c.20180C>T (TTN)	XP_024308867.1:p.Pro6727Leu
XM_024453100.1:c.10034C>T (TTN)	XP_024308868.1:p.Pro3345Leu