Canonical Allele Identifier: CA349543381

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424368A>T (hg19) ; chr2:g.178559641A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559641A>T , CM000664.2:g.178559641A>T	GRCh38
NC_000002.11:g.179424368A>T , CM000664.1:g.179424368A>T	GRCh37
NC_000002.10:g.179132614A>T	NCBI36
NG_011618.3:g.276162T>A , LRG_391:g.276162T>A
NG_051363.1:g.41815A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78787T>A (TTN)	ENSP00000343764.6:p.Leu26263Met
ENST00000342175.11:c.59872T>A (TTN)	ENSP00000340554.6:p.Leu19958Met
ENST00000359218.10:c.59671T>A (TTN)	ENSP00000352154.5:p.Leu19891Met
ENST00000342175.10:c.59872T>A (TTN)	ENSP00000340554.6:p.Leu19958Met
ENST00000342992.10:c.78787T>A (TTN)	ENSP00000343764.6:p.Leu26263Met
ENST00000359218.9:c.59671T>A (TTN)	ENSP00000352154.5:p.Leu19891Met
ENST00000460472.6:c.59296T>A (TTN)	ENSP00000434586.1:p.Leu19766Met
ENST00000589042.5:c.86491T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu28831Met
ENST00000591111.5:c.81568T>A (TTN)	ENSP00000465570.1:p.Leu27190Met
ENST00000615779.4:c.81568T>A (TTN)	ENSP00000483597.1:p.Leu27190Met
NM_001256850.1:c.81568T>A (TTN)	NP_001243779.1:p.Leu27190Met
NM_001267550.2:c.86491T>A (TTN) MANE Select	NP_001254479.2:p.Leu28831Met
NM_003319.4:c.59296T>A (TTN)	NP_003310.4:p.Leu19766Met
NM_133378.4:c.78787T>A (TTN)	NP_596869.4:p.Leu26263Met
NM_133432.3:c.59671T>A (TTN)	NP_597676.3:p.Leu19891Met
NM_133437.4:c.59872T>A (TTN)	NP_597681.4:p.Leu19958Met
NR_038271.1:n.447-11659A>T (TTN-AS1)
NR_038272.1:n.2043+17280A>T (TTN-AS1)
XM_011511729.1:c.85588T>A (TTN)	XP_011510031.1:p.Leu28530Met
XM_011511730.1:c.59482T>A (TTN)	XP_011510032.1:p.Leu19828Met
XM_011511731.1:c.59341T>A (TTN)	XP_011510033.1:p.Leu19781Met
XM_017004819.1:c.85384T>A (TTN)	XP_016860308.1:p.Leu28462Met
XM_017004820.1:c.80782T>A (TTN)	XP_016860309.1:p.Leu26928Met
XM_017004821.1:c.80779T>A (TTN)	XP_016860310.1:p.Leu26927Met
XM_017004822.1:c.77821T>A (TTN)	XP_016860311.1:p.Leu25941Met
XM_017004823.1:c.59437T>A (TTN)	XP_016860312.1:p.Leu19813Met
XM_024453094.1:c.80932T>A (TTN)	XP_024308862.1:p.Leu26978Met
XM_024453095.1:c.80929T>A (TTN)	XP_024308863.1:p.Leu26977Met
XM_024453096.1:c.80362T>A (TTN)	XP_024308864.1:p.Leu26788Met
XM_024453097.1:c.77704T>A (TTN)	XP_024308865.1:p.Leu25902Met
XM_024453098.1:c.77623T>A (TTN)	XP_024308866.1:p.Leu25875Met
XM_024453099.1:c.59386T>A (TTN)	XP_024308867.1:p.Leu19796Met
XM_024453100.1:c.49240T>A (TTN)	XP_024308868.1:p.Leu16414Met