Canonical Allele Identifier: CA10587485

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 264208
• ClinVar RCV Id: RCV000247192 ; RCV000526468 ; RCV000828869 ; RCV001798754
• dbSNP Id: rs886039082
• MyVariant Identifiers: chr2:g.179443539G>A (hg19) ; chr2:g.178578812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578812G>A , CM000664.2:g.178578812G>A	GRCh38
NC_000002.11:g.179443539G>A , CM000664.1:g.179443539G>A	GRCh37
NC_000002.10:g.179151785G>A	NCBI36
NG_011618.3:g.256991C>T , LRG_391:g.256991C>T
NG_051363.1:g.60986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60514C>T (TTN)	ENSP00000343764.6:p.Pro20172Ser
ENST00000342175.11:c.41599C>T (TTN)	ENSP00000340554.6:p.Pro13867Ser
ENST00000359218.10:c.41398C>T (TTN)	ENSP00000352154.5:p.Pro13800Ser
ENST00000342175.10:c.41599C>T (TTN)	ENSP00000340554.6:p.Pro13867Ser
ENST00000342992.10:c.60514C>T (TTN)	ENSP00000343764.6:p.Pro20172Ser
ENST00000359218.9:c.41398C>T (TTN)	ENSP00000352154.5:p.Pro13800Ser
ENST00000460472.6:c.41023C>T (TTN)	ENSP00000434586.1:p.Pro13675Ser
ENST00000589042.5:c.68218C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro22740Ser
ENST00000591111.5:c.63295C>T (TTN)	ENSP00000465570.1:p.Pro21099Ser
ENST00000615779.4:c.63295C>T (TTN)	ENSP00000483597.1:p.Pro21099Ser
NM_001256850.1:c.63295C>T (TTN)	NP_001243779.1:p.Pro21099Ser
NM_001267550.2:c.68218C>T (TTN) MANE Select	NP_001254479.2:p.Pro22740Ser
NM_003319.4:c.41023C>T (TTN)	NP_003310.4:p.Pro13675Ser
NM_133378.4:c.60514C>T (TTN)	NP_596869.4:p.Pro20172Ser
NM_133432.3:c.41398C>T (TTN)	NP_597676.3:p.Pro13800Ser
NM_133437.4:c.41599C>T (TTN)	NP_597681.4:p.Pro13867Ser
NR_038271.1:n.596+7363G>A (TTN-AS1)
NR_038272.1:n.2044-3760G>A (TTN-AS1)
XM_011511729.1:c.67315C>T (TTN)	XP_011510031.1:p.Pro22439Ser
XM_011511730.1:c.41209C>T (TTN)	XP_011510032.1:p.Pro13737Ser
XM_011511731.1:c.41068C>T (TTN)	XP_011510033.1:p.Pro13690Ser
XM_017004819.1:c.67111C>T (TTN)	XP_016860308.1:p.Pro22371Ser
XM_017004820.1:c.62509C>T (TTN)	XP_016860309.1:p.Pro20837Ser
XM_017004821.1:c.62506C>T (TTN)	XP_016860310.1:p.Pro20836Ser
XM_017004822.1:c.59548C>T (TTN)	XP_016860311.1:p.Pro19850Ser
XM_017004823.1:c.41164C>T (TTN)	XP_016860312.1:p.Pro13722Ser
XM_024453094.1:c.62659C>T (TTN)	XP_024308862.1:p.Pro20887Ser
XM_024453095.1:c.62656C>T (TTN)	XP_024308863.1:p.Pro20886Ser
XM_024453096.1:c.62089C>T (TTN)	XP_024308864.1:p.Pro20697Ser
XM_024453097.1:c.59431C>T (TTN)	XP_024308865.1:p.Pro19811Ser
XM_024453098.1:c.59350C>T (TTN)	XP_024308866.1:p.Pro19784Ser
XM_024453099.1:c.41113C>T (TTN)	XP_024308867.1:p.Pro13705Ser
XM_024453100.1:c.30967C>T (TTN)	XP_024308868.1:p.Pro10323Ser