Canonical Allele Identifier: CA349500067

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457942G>C (hg19) ; chr2:g.178593215G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593215G>C , CM000664.2:g.178593215G>C	GRCh38
NC_000002.11:g.179457942G>C , CM000664.1:g.179457942G>C	GRCh37
NC_000002.10:g.179166188G>C	NCBI36
NG_011618.3:g.242588C>G , LRG_391:g.242588C>G
NG_051363.1:g.75389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51289C>G (TTN)	ENSP00000343764.6:p.Pro17097Ala
ENST00000342175.11:c.32374C>G (TTN)	ENSP00000340554.6:p.Pro10792Ala
ENST00000359218.10:c.32173C>G (TTN)	ENSP00000352154.5:p.Pro10725Ala
ENST00000342175.10:c.32374C>G (TTN)	ENSP00000340554.6:p.Pro10792Ala
ENST00000342992.10:c.51289C>G (TTN)	ENSP00000343764.6:p.Pro17097Ala
ENST00000359218.9:c.32173C>G (TTN)	ENSP00000352154.5:p.Pro10725Ala
ENST00000460472.6:c.31798C>G (TTN)	ENSP00000434586.1:p.Pro10600Ala
ENST00000589042.5:c.58993C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19665Ala
ENST00000591111.5:c.54070C>G (TTN)	ENSP00000465570.1:p.Pro18024Ala
ENST00000615779.4:c.54070C>G (TTN)	ENSP00000483597.1:p.Pro18024Ala
NM_001256850.1:c.54070C>G (TTN)	NP_001243779.1:p.Pro18024Ala
NM_001267550.2:c.58993C>G (TTN) MANE Select	NP_001254479.2:p.Pro19665Ala
NM_003319.4:c.31798C>G (TTN)	NP_003310.4:p.Pro10600Ala
NM_133378.4:c.51289C>G (TTN)	NP_596869.4:p.Pro17097Ala
NM_133432.3:c.32173C>G (TTN)	NP_597676.3:p.Pro10725Ala
NM_133437.4:c.32374C>G (TTN)	NP_597681.4:p.Pro10792Ala
NR_038271.1:n.597-4381G>C (TTN-AS1)
NR_038272.1:n.3364+1901G>C (TTN-AS1)
XM_011511729.1:c.58090C>G (TTN)	XP_011510031.1:p.Pro19364Ala
XM_011511730.1:c.31984C>G (TTN)	XP_011510032.1:p.Pro10662Ala
XM_011511731.1:c.31843C>G (TTN)	XP_011510033.1:p.Pro10615Ala
XM_017004819.1:c.57886C>G (TTN)	XP_016860308.1:p.Pro19296Ala
XM_017004820.1:c.53284C>G (TTN)	XP_016860309.1:p.Pro17762Ala
XM_017004821.1:c.53281C>G (TTN)	XP_016860310.1:p.Pro17761Ala
XM_017004822.1:c.50323C>G (TTN)	XP_016860311.1:p.Pro16775Ala
XM_017004823.1:c.31939C>G (TTN)	XP_016860312.1:p.Pro10647Ala
XM_024453094.1:c.53434C>G (TTN)	XP_024308862.1:p.Pro17812Ala
XM_024453095.1:c.53431C>G (TTN)	XP_024308863.1:p.Pro17811Ala
XM_024453096.1:c.52864C>G (TTN)	XP_024308864.1:p.Pro17622Ala
XM_024453097.1:c.50206C>G (TTN)	XP_024308865.1:p.Pro16736Ala
XM_024453098.1:c.50125C>G (TTN)	XP_024308866.1:p.Pro16709Ala
XM_024453099.1:c.31888C>G (TTN)	XP_024308867.1:p.Pro10630Ala
XM_024453100.1:c.21742C>G (TTN)	XP_024308868.1:p.Pro7248Ala