Canonical Allele Identifier: CA10613278

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332819
• ClinVar RCV Id: RCV000268813 ; RCV000320381 ; RCV000326238 ; RCV000370458 ; RCV000383052
• dbSNP Id: rs886055256
• gnomAD v4: 2-178590914-G-T
• MyVariant Identifiers: chr2:g.179455641G>T (hg19) ; chr2:g.178590914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590914G>T , CM000664.2:g.178590914G>T	GRCh38
NC_000002.11:g.179455641G>T , CM000664.1:g.179455641G>T	GRCh37
NC_000002.10:g.179163887G>T	NCBI36
NG_011618.3:g.244889C>A , LRG_391:g.244889C>A
NG_051363.1:g.73088G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53107C>A (TTN)	ENSP00000343764.6:p.Pro17703Thr
ENST00000342175.11:c.34192C>A (TTN)	ENSP00000340554.6:p.Pro11398Thr
ENST00000359218.10:c.33991C>A (TTN)	ENSP00000352154.5:p.Pro11331Thr
ENST00000342175.10:c.34192C>A (TTN)	ENSP00000340554.6:p.Pro11398Thr
ENST00000342992.10:c.53107C>A (TTN)	ENSP00000343764.6:p.Pro17703Thr
ENST00000359218.9:c.33991C>A (TTN)	ENSP00000352154.5:p.Pro11331Thr
ENST00000460472.6:c.33616C>A (TTN)	ENSP00000434586.1:p.Pro11206Thr
ENST00000589042.5:c.60811C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro20271Thr
ENST00000591111.5:c.55888C>A (TTN)	ENSP00000465570.1:p.Pro18630Thr
ENST00000615779.4:c.55888C>A (TTN)	ENSP00000483597.1:p.Pro18630Thr
NM_001256850.1:c.55888C>A (TTN)	NP_001243779.1:p.Pro18630Thr
NM_001267550.2:c.60811C>A (TTN) MANE Select	NP_001254479.2:p.Pro20271Thr
NM_003319.4:c.33616C>A (TTN)	NP_003310.4:p.Pro11206Thr
NM_133378.4:c.53107C>A (TTN)	NP_596869.4:p.Pro17703Thr
NM_133432.3:c.33991C>A (TTN)	NP_597676.3:p.Pro11331Thr
NM_133437.4:c.34192C>A (TTN)	NP_597681.4:p.Pro11398Thr
NR_038271.1:n.597-6682G>T (TTN-AS1)
NR_038272.1:n.3189-225G>T (TTN-AS1)
XM_011511729.1:c.59908C>A (TTN)	XP_011510031.1:p.Pro19970Thr
XM_011511730.1:c.33802C>A (TTN)	XP_011510032.1:p.Pro11268Thr
XM_011511731.1:c.33661C>A (TTN)	XP_011510033.1:p.Pro11221Thr
XM_017004819.1:c.59704C>A (TTN)	XP_016860308.1:p.Pro19902Thr
XM_017004820.1:c.55102C>A (TTN)	XP_016860309.1:p.Pro18368Thr
XM_017004821.1:c.55099C>A (TTN)	XP_016860310.1:p.Pro18367Thr
XM_017004822.1:c.52141C>A (TTN)	XP_016860311.1:p.Pro17381Thr
XM_017004823.1:c.33757C>A (TTN)	XP_016860312.1:p.Pro11253Thr
XM_024453094.1:c.55252C>A (TTN)	XP_024308862.1:p.Pro18418Thr
XM_024453095.1:c.55249C>A (TTN)	XP_024308863.1:p.Pro18417Thr
XM_024453096.1:c.54682C>A (TTN)	XP_024308864.1:p.Pro18228Thr
XM_024453097.1:c.52024C>A (TTN)	XP_024308865.1:p.Pro17342Thr
XM_024453098.1:c.51943C>A (TTN)	XP_024308866.1:p.Pro17315Thr
XM_024453099.1:c.33706C>A (TTN)	XP_024308867.1:p.Pro11236Thr
XM_024453100.1:c.23560C>A (TTN)	XP_024308868.1:p.Pro7854Thr