Canonical Allele Identifier: CA1987394

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs778473278
• ExAC: 2:179413493 T / A
• gnomAD v2: 2-179413493-T-A
• gnomAD v3: 2-178548766-T-A
• gnomAD v4: 2-178548766-T-A
• MyVariant Identifiers: chr2:g.179413493T>A (hg19) ; chr2:g.178548766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548766T>A , CM000664.2:g.178548766T>A	GRCh38
NC_000002.11:g.179413493T>A , CM000664.1:g.179413493T>A	GRCh37
NC_000002.10:g.179121739T>A	NCBI36
NG_011618.3:g.287037A>T , LRG_391:g.287037A>T
NG_051363.1:g.30940T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85156A>T (TTN)	ENSP00000343764.6:p.Thr28386Ser
ENST00000342175.11:c.66241A>T (TTN)	ENSP00000340554.6:p.Thr22081Ser
ENST00000359218.10:c.66040A>T (TTN)	ENSP00000352154.5:p.Thr22014Ser
ENST00000342175.10:c.66241A>T (TTN)	ENSP00000340554.6:p.Thr22081Ser
ENST00000342992.10:c.85156A>T (TTN)	ENSP00000343764.6:p.Thr28386Ser
ENST00000359218.9:c.66040A>T (TTN)	ENSP00000352154.5:p.Thr22014Ser
ENST00000460472.6:c.65665A>T (TTN)	ENSP00000434586.1:p.Thr21889Ser
ENST00000589042.5:c.92860A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr30954Ser
ENST00000591111.5:c.87937A>T (TTN)	ENSP00000465570.1:p.Thr29313Ser
ENST00000615779.4:c.87937A>T (TTN)	ENSP00000483597.1:p.Thr29313Ser
NM_001256850.1:c.87937A>T (TTN)	NP_001243779.1:p.Thr29313Ser
NM_001267550.2:c.92860A>T (TTN) MANE Select	NP_001254479.2:p.Thr30954Ser
NM_003319.4:c.65665A>T (TTN)	NP_003310.4:p.Thr21889Ser
NM_133378.4:c.85156A>T (TTN)	NP_596869.4:p.Thr28386Ser
NM_133432.3:c.66040A>T (TTN)	NP_597676.3:p.Thr22014Ser
NM_133437.4:c.66241A>T (TTN)	NP_597681.4:p.Thr22081Ser
NR_038271.1:n.447-22534T>A (TTN-AS1)
NR_038272.1:n.2043+6405T>A (TTN-AS1)
XM_011511729.1:c.91957A>T (TTN)	XP_011510031.1:p.Thr30653Ser
XM_011511730.1:c.65851A>T (TTN)	XP_011510032.1:p.Thr21951Ser
XM_011511731.1:c.65710A>T (TTN)	XP_011510033.1:p.Thr21904Ser
XM_017004819.1:c.91753A>T (TTN)	XP_016860308.1:p.Thr30585Ser
XM_017004820.1:c.87151A>T (TTN)	XP_016860309.1:p.Thr29051Ser
XM_017004821.1:c.87148A>T (TTN)	XP_016860310.1:p.Thr29050Ser
XM_017004822.1:c.84190A>T (TTN)	XP_016860311.1:p.Thr28064Ser
XM_017004823.1:c.65806A>T (TTN)	XP_016860312.1:p.Thr21936Ser
XM_024453094.1:c.87301A>T (TTN)	XP_024308862.1:p.Thr29101Ser
XM_024453095.1:c.87298A>T (TTN)	XP_024308863.1:p.Thr29100Ser
XM_024453096.1:c.86731A>T (TTN)	XP_024308864.1:p.Thr28911Ser
XM_024453097.1:c.84073A>T (TTN)	XP_024308865.1:p.Thr28025Ser
XM_024453098.1:c.83992A>T (TTN)	XP_024308866.1:p.Thr27998Ser
XM_024453099.1:c.65755A>T (TTN)	XP_024308867.1:p.Thr21919Ser
XM_024453100.1:c.55609A>T (TTN)	XP_024308868.1:p.Thr18537Ser