Canonical Allele Identifier: CA349465226

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178589420-G-T
• MyVariant Identifiers: chr2:g.179454147G>T (hg19) ; chr2:g.178589420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589420G>T , CM000664.2:g.178589420G>T	GRCh38
NC_000002.11:g.179454147G>T , CM000664.1:g.179454147G>T	GRCh37
NC_000002.10:g.179162393G>T	NCBI36
NG_011618.3:g.246383C>A , LRG_391:g.246383C>A
NG_051363.1:g.71594G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54601C>A (TTN)	ENSP00000343764.6:p.Pro18201Thr
ENST00000342175.11:c.35686C>A (TTN)	ENSP00000340554.6:p.Pro11896Thr
ENST00000359218.10:c.35485C>A (TTN)	ENSP00000352154.5:p.Pro11829Thr
ENST00000342175.10:c.35686C>A (TTN)	ENSP00000340554.6:p.Pro11896Thr
ENST00000342992.10:c.54601C>A (TTN)	ENSP00000343764.6:p.Pro18201Thr
ENST00000359218.9:c.35485C>A (TTN)	ENSP00000352154.5:p.Pro11829Thr
ENST00000460472.6:c.35110C>A (TTN)	ENSP00000434586.1:p.Pro11704Thr
ENST00000589042.5:c.62305C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro20769Thr
ENST00000591111.5:c.57382C>A (TTN)	ENSP00000465570.1:p.Pro19128Thr
ENST00000615779.4:c.57382C>A (TTN)	ENSP00000483597.1:p.Pro19128Thr
NM_001256850.1:c.57382C>A (TTN)	NP_001243779.1:p.Pro19128Thr
NM_001267550.2:c.62305C>A (TTN) MANE Select	NP_001254479.2:p.Pro20769Thr
NM_003319.4:c.35110C>A (TTN)	NP_003310.4:p.Pro11704Thr
NM_133378.4:c.54601C>A (TTN)	NP_596869.4:p.Pro18201Thr
NM_133432.3:c.35485C>A (TTN)	NP_597676.3:p.Pro11829Thr
NM_133437.4:c.35686C>A (TTN)	NP_597681.4:p.Pro11896Thr
NR_038271.1:n.597-8176G>T (TTN-AS1)
NR_038272.1:n.3189-1719G>T (TTN-AS1)
XM_011511729.1:c.61402C>A (TTN)	XP_011510031.1:p.Pro20468Thr
XM_011511730.1:c.35296C>A (TTN)	XP_011510032.1:p.Pro11766Thr
XM_011511731.1:c.35155C>A (TTN)	XP_011510033.1:p.Pro11719Thr
XM_017004819.1:c.61198C>A (TTN)	XP_016860308.1:p.Pro20400Thr
XM_017004820.1:c.56596C>A (TTN)	XP_016860309.1:p.Pro18866Thr
XM_017004821.1:c.56593C>A (TTN)	XP_016860310.1:p.Pro18865Thr
XM_017004822.1:c.53635C>A (TTN)	XP_016860311.1:p.Pro17879Thr
XM_017004823.1:c.35251C>A (TTN)	XP_016860312.1:p.Pro11751Thr
XM_024453094.1:c.56746C>A (TTN)	XP_024308862.1:p.Pro18916Thr
XM_024453095.1:c.56743C>A (TTN)	XP_024308863.1:p.Pro18915Thr
XM_024453096.1:c.56176C>A (TTN)	XP_024308864.1:p.Pro18726Thr
XM_024453097.1:c.53518C>A (TTN)	XP_024308865.1:p.Pro17840Thr
XM_024453098.1:c.53437C>A (TTN)	XP_024308866.1:p.Pro17813Thr
XM_024453099.1:c.35200C>A (TTN)	XP_024308867.1:p.Pro11734Thr
XM_024453100.1:c.25054C>A (TTN)	XP_024308868.1:p.Pro8352Thr