Canonical Allele Identifier: CA349436157

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1220907025
• gnomAD v2: 2-179449422-G-A
• gnomAD v4: 2-178584695-G-A
• COSMIC: COSM2900586 ; COSM2900587 ; COSM2900588 ; COSM2900589
• MyVariant Identifiers: chr2:g.179449422G>A (hg19) ; chr2:g.178584695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584695G>A , CM000664.2:g.178584695G>A	GRCh38
NC_000002.11:g.179449422G>A , CM000664.1:g.179449422G>A	GRCh37
NC_000002.10:g.179157668G>A	NCBI36
NG_011618.3:g.251108C>T , LRG_391:g.251108C>T
NG_051363.1:g.66869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57242C>T (TTN)	ENSP00000343764.6:p.Pro19081Leu
ENST00000342175.11:c.38327C>T (TTN)	ENSP00000340554.6:p.Pro12776Leu
ENST00000359218.10:c.38126C>T (TTN)	ENSP00000352154.5:p.Pro12709Leu
ENST00000342175.10:c.38327C>T (TTN)	ENSP00000340554.6:p.Pro12776Leu
ENST00000342992.10:c.57242C>T (TTN)	ENSP00000343764.6:p.Pro19081Leu
ENST00000359218.9:c.38126C>T (TTN)	ENSP00000352154.5:p.Pro12709Leu
ENST00000460472.6:c.37751C>T (TTN)	ENSP00000434586.1:p.Pro12584Leu
ENST00000589042.5:c.64946C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro21649Leu
ENST00000591111.5:c.60023C>T (TTN)	ENSP00000465570.1:p.Pro20008Leu
ENST00000615779.4:c.60023C>T (TTN)	ENSP00000483597.1:p.Pro20008Leu
NM_001256850.1:c.60023C>T (TTN)	NP_001243779.1:p.Pro20008Leu
NM_001267550.2:c.64946C>T (TTN) MANE Select	NP_001254479.2:p.Pro21649Leu
NM_003319.4:c.37751C>T (TTN)	NP_003310.4:p.Pro12584Leu
NM_133378.4:c.57242C>T (TTN)	NP_596869.4:p.Pro19081Leu
NM_133432.3:c.38126C>T (TTN)	NP_597676.3:p.Pro12709Leu
NM_133437.4:c.38327C>T (TTN)	NP_597681.4:p.Pro12776Leu
NR_038271.1:n.597-12901G>A (TTN-AS1)
NR_038272.1:n.2890G>A (TTN-AS1)
XM_011511729.1:c.64043C>T (TTN)	XP_011510031.1:p.Pro21348Leu
XM_011511730.1:c.37937C>T (TTN)	XP_011510032.1:p.Pro12646Leu
XM_011511731.1:c.37796C>T (TTN)	XP_011510033.1:p.Pro12599Leu
XM_017004819.1:c.63839C>T (TTN)	XP_016860308.1:p.Pro21280Leu
XM_017004820.1:c.59237C>T (TTN)	XP_016860309.1:p.Pro19746Leu
XM_017004821.1:c.59234C>T (TTN)	XP_016860310.1:p.Pro19745Leu
XM_017004822.1:c.56276C>T (TTN)	XP_016860311.1:p.Pro18759Leu
XM_017004823.1:c.37892C>T (TTN)	XP_016860312.1:p.Pro12631Leu
XM_024453094.1:c.59387C>T (TTN)	XP_024308862.1:p.Pro19796Leu
XM_024453095.1:c.59384C>T (TTN)	XP_024308863.1:p.Pro19795Leu
XM_024453096.1:c.58817C>T (TTN)	XP_024308864.1:p.Pro19606Leu
XM_024453097.1:c.56159C>T (TTN)	XP_024308865.1:p.Pro18720Leu
XM_024453098.1:c.56078C>T (TTN)	XP_024308866.1:p.Pro18693Leu
XM_024453099.1:c.37841C>T (TTN)	XP_024308867.1:p.Pro12614Leu
XM_024453100.1:c.27695C>T (TTN)	XP_024308868.1:p.Pro9232Leu