Canonical Allele Identifier: CA349450941

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543894-T-C
• MyVariant Identifiers: chr2:g.179408621T>C (hg19) ; chr2:g.178543894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543894T>C , CM000664.2:g.178543894T>C	GRCh38
NC_000002.11:g.179408621T>C , CM000664.1:g.179408621T>C	GRCh37
NC_000002.10:g.179116867T>C	NCBI36
NG_011618.3:g.291909A>G , LRG_391:g.291909A>G
NG_051363.1:g.26068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88546A>G (TTN)	ENSP00000343764.6:p.Thr29516Ala
ENST00000342175.11:c.69631A>G (TTN)	ENSP00000340554.6:p.Thr23211Ala
ENST00000359218.10:c.69430A>G (TTN)	ENSP00000352154.5:p.Thr23144Ala
ENST00000342175.10:c.69631A>G (TTN)	ENSP00000340554.6:p.Thr23211Ala
ENST00000342992.10:c.88546A>G (TTN)	ENSP00000343764.6:p.Thr29516Ala
ENST00000359218.9:c.69430A>G (TTN)	ENSP00000352154.5:p.Thr23144Ala
ENST00000460472.6:c.69055A>G (TTN)	ENSP00000434586.1:p.Thr23019Ala
ENST00000589042.5:c.96250A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr32084Ala
ENST00000591111.5:c.91327A>G (TTN)	ENSP00000465570.1:p.Thr30443Ala
ENST00000615779.4:c.91327A>G (TTN)	ENSP00000483597.1:p.Thr30443Ala
NM_001256850.1:c.91327A>G (TTN)	NP_001243779.1:p.Thr30443Ala
NM_001267550.2:c.96250A>G (TTN) MANE Select	NP_001254479.2:p.Thr32084Ala
NM_003319.4:c.69055A>G (TTN)	NP_003310.4:p.Thr23019Ala
NM_133378.4:c.88546A>G (TTN)	NP_596869.4:p.Thr29516Ala
NM_133432.3:c.69430A>G (TTN)	NP_597676.3:p.Thr23144Ala
NM_133437.4:c.69631A>G (TTN)	NP_597681.4:p.Thr23211Ala
NR_038271.1:n.446+20258T>C (TTN-AS1)
NR_038272.1:n.2043+1533T>C (TTN-AS1)
XM_011511729.1:c.95347A>G (TTN)	XP_011510031.1:p.Thr31783Ala
XM_011511730.1:c.69241A>G (TTN)	XP_011510032.1:p.Thr23081Ala
XM_011511731.1:c.69100A>G (TTN)	XP_011510033.1:p.Thr23034Ala
XM_017004819.1:c.95143A>G (TTN)	XP_016860308.1:p.Thr31715Ala
XM_017004820.1:c.90541A>G (TTN)	XP_016860309.1:p.Thr30181Ala
XM_017004821.1:c.90538A>G (TTN)	XP_016860310.1:p.Thr30180Ala
XM_017004822.1:c.87580A>G (TTN)	XP_016860311.1:p.Thr29194Ala
XM_017004823.1:c.69196A>G (TTN)	XP_016860312.1:p.Thr23066Ala
XM_024453094.1:c.90691A>G (TTN)	XP_024308862.1:p.Thr30231Ala
XM_024453095.1:c.90688A>G (TTN)	XP_024308863.1:p.Thr30230Ala
XM_024453096.1:c.90121A>G (TTN)	XP_024308864.1:p.Thr30041Ala
XM_024453097.1:c.87463A>G (TTN)	XP_024308865.1:p.Thr29155Ala
XM_024453098.1:c.87382A>G (TTN)	XP_024308866.1:p.Thr29128Ala
XM_024453099.1:c.69145A>G (TTN)	XP_024308867.1:p.Thr23049Ala
XM_024453100.1:c.58999A>G (TTN)	XP_024308868.1:p.Thr19667Ala