Canonical Allele Identifier: CA349471254

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411465C>G (hg19) ; chr2:g.178546738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546738C>G , CM000664.2:g.178546738C>G	GRCh38
NC_000002.11:g.179411465C>G , CM000664.1:g.179411465C>G	GRCh37
NC_000002.10:g.179119711C>G	NCBI36
NG_011618.3:g.289065G>C , LRG_391:g.289065G>C
NG_051363.1:g.28912C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86986G>C (TTN)	ENSP00000343764.6:p.Val28996Leu
ENST00000342175.11:c.68071G>C (TTN)	ENSP00000340554.6:p.Val22691Leu
ENST00000359218.10:c.67870G>C (TTN)	ENSP00000352154.5:p.Val22624Leu
ENST00000342175.10:c.68071G>C (TTN)	ENSP00000340554.6:p.Val22691Leu
ENST00000342992.10:c.86986G>C (TTN)	ENSP00000343764.6:p.Val28996Leu
ENST00000359218.9:c.67870G>C (TTN)	ENSP00000352154.5:p.Val22624Leu
ENST00000460472.6:c.67495G>C (TTN)	ENSP00000434586.1:p.Val22499Leu
ENST00000589042.5:c.94690G>C (TTN) MANE Select	ENSP00000467141.1:p.Val31564Leu
ENST00000591111.5:c.89767G>C (TTN)	ENSP00000465570.1:p.Val29923Leu
ENST00000615779.4:c.89767G>C (TTN)	ENSP00000483597.1:p.Val29923Leu
NM_001256850.1:c.89767G>C (TTN)	NP_001243779.1:p.Val29923Leu
NM_001267550.2:c.94690G>C (TTN) MANE Select	NP_001254479.2:p.Val31564Leu
NM_003319.4:c.67495G>C (TTN)	NP_003310.4:p.Val22499Leu
NM_133378.4:c.86986G>C (TTN)	NP_596869.4:p.Val28996Leu
NM_133432.3:c.67870G>C (TTN)	NP_597676.3:p.Val22624Leu
NM_133437.4:c.68071G>C (TTN)	NP_597681.4:p.Val22691Leu
NR_038271.1:n.446+23102C>G (TTN-AS1)
NR_038272.1:n.2043+4377C>G (TTN-AS1)
XM_011511729.1:c.93787G>C (TTN)	XP_011510031.1:p.Val31263Leu
XM_011511730.1:c.67681G>C (TTN)	XP_011510032.1:p.Val22561Leu
XM_011511731.1:c.67540G>C (TTN)	XP_011510033.1:p.Val22514Leu
XM_017004819.1:c.93583G>C (TTN)	XP_016860308.1:p.Val31195Leu
XM_017004820.1:c.88981G>C (TTN)	XP_016860309.1:p.Val29661Leu
XM_017004821.1:c.88978G>C (TTN)	XP_016860310.1:p.Val29660Leu
XM_017004822.1:c.86020G>C (TTN)	XP_016860311.1:p.Val28674Leu
XM_017004823.1:c.67636G>C (TTN)	XP_016860312.1:p.Val22546Leu
XM_024453094.1:c.89131G>C (TTN)	XP_024308862.1:p.Val29711Leu
XM_024453095.1:c.89128G>C (TTN)	XP_024308863.1:p.Val29710Leu
XM_024453096.1:c.88561G>C (TTN)	XP_024308864.1:p.Val29521Leu
XM_024453097.1:c.85903G>C (TTN)	XP_024308865.1:p.Val28635Leu
XM_024453098.1:c.85822G>C (TTN)	XP_024308866.1:p.Val28608Leu
XM_024453099.1:c.67585G>C (TTN)	XP_024308867.1:p.Val22529Leu
XM_024453100.1:c.57439G>C (TTN)	XP_024308868.1:p.Val19147Leu