Canonical Allele Identifier: CA349471425

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411480A>T (hg19) ; chr2:g.178546753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546753A>T , CM000664.2:g.178546753A>T	GRCh38
NC_000002.11:g.179411480A>T , CM000664.1:g.179411480A>T	GRCh37
NC_000002.10:g.179119726A>T	NCBI36
NG_011618.3:g.289050T>A , LRG_391:g.289050T>A
NG_051363.1:g.28927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86971T>A (TTN)	ENSP00000343764.6:p.Cys28991Ser
ENST00000342175.11:c.68056T>A (TTN)	ENSP00000340554.6:p.Cys22686Ser
ENST00000359218.10:c.67855T>A (TTN)	ENSP00000352154.5:p.Cys22619Ser
ENST00000342175.10:c.68056T>A (TTN)	ENSP00000340554.6:p.Cys22686Ser
ENST00000342992.10:c.86971T>A (TTN)	ENSP00000343764.6:p.Cys28991Ser
ENST00000359218.9:c.67855T>A (TTN)	ENSP00000352154.5:p.Cys22619Ser
ENST00000460472.6:c.67480T>A (TTN)	ENSP00000434586.1:p.Cys22494Ser
ENST00000589042.5:c.94675T>A (TTN) MANE Select	ENSP00000467141.1:p.Cys31559Ser
ENST00000591111.5:c.89752T>A (TTN)	ENSP00000465570.1:p.Cys29918Ser
ENST00000615779.4:c.89752T>A (TTN)	ENSP00000483597.1:p.Cys29918Ser
NM_001256850.1:c.89752T>A (TTN)	NP_001243779.1:p.Cys29918Ser
NM_001267550.2:c.94675T>A (TTN) MANE Select	NP_001254479.2:p.Cys31559Ser
NM_003319.4:c.67480T>A (TTN)	NP_003310.4:p.Cys22494Ser
NM_133378.4:c.86971T>A (TTN)	NP_596869.4:p.Cys28991Ser
NM_133432.3:c.67855T>A (TTN)	NP_597676.3:p.Cys22619Ser
NM_133437.4:c.68056T>A (TTN)	NP_597681.4:p.Cys22686Ser
NR_038271.1:n.446+23117A>T (TTN-AS1)
NR_038272.1:n.2043+4392A>T (TTN-AS1)
XM_011511729.1:c.93772T>A (TTN)	XP_011510031.1:p.Cys31258Ser
XM_011511730.1:c.67666T>A (TTN)	XP_011510032.1:p.Cys22556Ser
XM_011511731.1:c.67525T>A (TTN)	XP_011510033.1:p.Cys22509Ser
XM_017004819.1:c.93568T>A (TTN)	XP_016860308.1:p.Cys31190Ser
XM_017004820.1:c.88966T>A (TTN)	XP_016860309.1:p.Cys29656Ser
XM_017004821.1:c.88963T>A (TTN)	XP_016860310.1:p.Cys29655Ser
XM_017004822.1:c.86005T>A (TTN)	XP_016860311.1:p.Cys28669Ser
XM_017004823.1:c.67621T>A (TTN)	XP_016860312.1:p.Cys22541Ser
XM_024453094.1:c.89116T>A (TTN)	XP_024308862.1:p.Cys29706Ser
XM_024453095.1:c.89113T>A (TTN)	XP_024308863.1:p.Cys29705Ser
XM_024453096.1:c.88546T>A (TTN)	XP_024308864.1:p.Cys29516Ser
XM_024453097.1:c.85888T>A (TTN)	XP_024308865.1:p.Cys28630Ser
XM_024453098.1:c.85807T>A (TTN)	XP_024308866.1:p.Cys28603Ser
XM_024453099.1:c.67570T>A (TTN)	XP_024308867.1:p.Cys22524Ser
XM_024453100.1:c.57424T>A (TTN)	XP_024308868.1:p.Cys19142Ser