Canonical Allele Identifier: CA349406417

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530367-A-C
• MyVariant Identifiers: chr2:g.179395094A>C (hg19) ; chr2:g.178530367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530367A>C , CM000664.2:g.178530367A>C	GRCh38
NC_000002.11:g.179395094A>C , CM000664.1:g.179395094A>C	GRCh37
NC_000002.10:g.179103340A>C	NCBI36
NG_011618.3:g.305436T>G , LRG_391:g.305436T>G
NG_051363.1:g.12541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98544T>G (TTN)	ENSP00000343764.6:p.Ile32848Met
ENST00000342175.11:c.79629T>G (TTN)	ENSP00000340554.6:p.Ile26543Met
ENST00000359218.10:c.79428T>G (TTN)	ENSP00000352154.5:p.Ile26476Met
ENST00000342175.10:c.79629T>G (TTN)	ENSP00000340554.6:p.Ile26543Met
ENST00000342992.10:c.98544T>G (TTN)	ENSP00000343764.6:p.Ile32848Met
ENST00000359218.9:c.79428T>G (TTN)	ENSP00000352154.5:p.Ile26476Met
ENST00000460472.6:c.79053T>G (TTN)	ENSP00000434586.1:p.Ile26351Met
ENST00000589042.5:c.106248T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35416Met
ENST00000591111.5:c.101325T>G (TTN)	ENSP00000465570.1:p.Ile33775Met
ENST00000615779.4:c.101325T>G (TTN)	ENSP00000483597.1:p.Ile33775Met
NM_001256850.1:c.101325T>G (TTN)	NP_001243779.1:p.Ile33775Met
NM_001267550.2:c.106248T>G (TTN) MANE Select	NP_001254479.2:p.Ile35416Met
NM_003319.4:c.79053T>G (TTN)	NP_003310.4:p.Ile26351Met
NM_133378.4:c.98544T>G (TTN)	NP_596869.4:p.Ile32848Met
NM_133432.3:c.79428T>G (TTN)	NP_597676.3:p.Ile26476Met
NM_133437.4:c.79629T>G (TTN)	NP_597681.4:p.Ile26543Met
NR_038271.1:n.446+6731A>C (TTN-AS1)
NR_038272.1:n.220-5365A>C (TTN-AS1)
XM_011511729.1:c.105345T>G (TTN)	XP_011510031.1:p.Ile35115Met
XM_011511730.1:c.79239T>G (TTN)	XP_011510032.1:p.Ile26413Met
XM_011511731.1:c.79098T>G (TTN)	XP_011510033.1:p.Ile26366Met
XM_017004819.1:c.105141T>G (TTN)	XP_016860308.1:p.Ile35047Met
XM_017004820.1:c.100539T>G (TTN)	XP_016860309.1:p.Ile33513Met
XM_017004821.1:c.100536T>G (TTN)	XP_016860310.1:p.Ile33512Met
XM_017004822.1:c.97578T>G (TTN)	XP_016860311.1:p.Ile32526Met
XM_017004823.1:c.79194T>G (TTN)	XP_016860312.1:p.Ile26398Met
XM_024453094.1:c.100689T>G (TTN)	XP_024308862.1:p.Ile33563Met
XM_024453095.1:c.100686T>G (TTN)	XP_024308863.1:p.Ile33562Met
XM_024453096.1:c.100119T>G (TTN)	XP_024308864.1:p.Ile33373Met
XM_024453097.1:c.97461T>G (TTN)	XP_024308865.1:p.Ile32487Met
XM_024453098.1:c.97380T>G (TTN)	XP_024308866.1:p.Ile32460Met
XM_024453099.1:c.79143T>G (TTN)	XP_024308867.1:p.Ile26381Met
XM_024453100.1:c.68997T>G (TTN)	XP_024308868.1:p.Ile22999Met