Canonical Allele Identifier: CA349457014

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1405729797
• gnomAD v3: 2-178544393-G-C
• gnomAD v4: 2-178544393-G-C
• MyVariant Identifiers: chr2:g.179409120G>C (hg19) ; chr2:g.178544393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544393G>C , CM000664.2:g.178544393G>C	GRCh38
NC_000002.11:g.179409120G>C , CM000664.1:g.179409120G>C	GRCh37
NC_000002.10:g.179117366G>C	NCBI36
NG_011618.3:g.291410C>G , LRG_391:g.291410C>G
NG_051363.1:g.26567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88132C>G (TTN)	ENSP00000343764.6:p.Leu29378Val
ENST00000342175.11:c.69217C>G (TTN)	ENSP00000340554.6:p.Leu23073Val
ENST00000359218.10:c.69016C>G (TTN)	ENSP00000352154.5:p.Leu23006Val
ENST00000342175.10:c.69217C>G (TTN)	ENSP00000340554.6:p.Leu23073Val
ENST00000342992.10:c.88132C>G (TTN)	ENSP00000343764.6:p.Leu29378Val
ENST00000359218.9:c.69016C>G (TTN)	ENSP00000352154.5:p.Leu23006Val
ENST00000460472.6:c.68641C>G (TTN)	ENSP00000434586.1:p.Leu22881Val
ENST00000589042.5:c.95836C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu31946Val
ENST00000591111.5:c.90913C>G (TTN)	ENSP00000465570.1:p.Leu30305Val
ENST00000615779.4:c.90913C>G (TTN)	ENSP00000483597.1:p.Leu30305Val
NM_001256850.1:c.90913C>G (TTN)	NP_001243779.1:p.Leu30305Val
NM_001267550.2:c.95836C>G (TTN) MANE Select	NP_001254479.2:p.Leu31946Val
NM_003319.4:c.68641C>G (TTN)	NP_003310.4:p.Leu22881Val
NM_133378.4:c.88132C>G (TTN)	NP_596869.4:p.Leu29378Val
NM_133432.3:c.69016C>G (TTN)	NP_597676.3:p.Leu23006Val
NM_133437.4:c.69217C>G (TTN)	NP_597681.4:p.Leu23073Val
NR_038271.1:n.446+20757G>C (TTN-AS1)
NR_038272.1:n.2043+2032G>C (TTN-AS1)
XM_011511729.1:c.94933C>G (TTN)	XP_011510031.1:p.Leu31645Val
XM_011511730.1:c.68827C>G (TTN)	XP_011510032.1:p.Leu22943Val
XM_011511731.1:c.68686C>G (TTN)	XP_011510033.1:p.Leu22896Val
XM_017004819.1:c.94729C>G (TTN)	XP_016860308.1:p.Leu31577Val
XM_017004820.1:c.90127C>G (TTN)	XP_016860309.1:p.Leu30043Val
XM_017004821.1:c.90124C>G (TTN)	XP_016860310.1:p.Leu30042Val
XM_017004822.1:c.87166C>G (TTN)	XP_016860311.1:p.Leu29056Val
XM_017004823.1:c.68782C>G (TTN)	XP_016860312.1:p.Leu22928Val
XM_024453094.1:c.90277C>G (TTN)	XP_024308862.1:p.Leu30093Val
XM_024453095.1:c.90274C>G (TTN)	XP_024308863.1:p.Leu30092Val
XM_024453096.1:c.89707C>G (TTN)	XP_024308864.1:p.Leu29903Val
XM_024453097.1:c.87049C>G (TTN)	XP_024308865.1:p.Leu29017Val
XM_024453098.1:c.86968C>G (TTN)	XP_024308866.1:p.Leu28990Val
XM_024453099.1:c.68731C>G (TTN)	XP_024308867.1:p.Leu22911Val
XM_024453100.1:c.58585C>G (TTN)	XP_024308868.1:p.Leu19529Val