Canonical Allele Identifier: CA349501161

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534974
• ClinVar RCV Id: RCV000642718
• dbSNP Id: rs1553649122
• MyVariant Identifiers: chr2:g.179458061C>T (hg19) ; chr2:g.178593334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593334C>T , CM000664.2:g.178593334C>T	GRCh38
NC_000002.11:g.179458061C>T , CM000664.1:g.179458061C>T	GRCh37
NC_000002.10:g.179166307C>T	NCBI36
NG_011618.3:g.242469G>A , LRG_391:g.242469G>A
NG_051363.1:g.75508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51170G>A (TTN)	ENSP00000343764.6:p.Trp17057Ter
ENST00000342175.11:c.32255G>A (TTN)	ENSP00000340554.6:p.Trp10752Ter
ENST00000359218.10:c.32054G>A (TTN)	ENSP00000352154.5:p.Trp10685Ter
ENST00000342175.10:c.32255G>A (TTN)	ENSP00000340554.6:p.Trp10752Ter
ENST00000342992.10:c.51170G>A (TTN)	ENSP00000343764.6:p.Trp17057Ter
ENST00000359218.9:c.32054G>A (TTN)	ENSP00000352154.5:p.Trp10685Ter
ENST00000460472.6:c.31679G>A (TTN)	ENSP00000434586.1:p.Trp10560Ter
ENST00000589042.5:c.58874G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp19625Ter
ENST00000591111.5:c.53951G>A (TTN)	ENSP00000465570.1:p.Trp17984Ter
ENST00000615779.4:c.53951G>A (TTN)	ENSP00000483597.1:p.Trp17984Ter
NM_001256850.1:c.53951G>A (TTN)	NP_001243779.1:p.Trp17984Ter
NM_001267550.2:c.58874G>A (TTN) MANE Select	NP_001254479.2:p.Trp19625Ter
NM_003319.4:c.31679G>A (TTN)	NP_003310.4:p.Trp10560Ter
NM_133378.4:c.51170G>A (TTN)	NP_596869.4:p.Trp17057Ter
NM_133432.3:c.32054G>A (TTN)	NP_597676.3:p.Trp10685Ter
NM_133437.4:c.32255G>A (TTN)	NP_597681.4:p.Trp10752Ter
NR_038271.1:n.597-4262C>T (TTN-AS1)
NR_038272.1:n.3364+2020C>T (TTN-AS1)
XM_011511729.1:c.57971G>A (TTN)	XP_011510031.1:p.Trp19324Ter
XM_011511730.1:c.31865G>A (TTN)	XP_011510032.1:p.Trp10622Ter
XM_011511731.1:c.31724G>A (TTN)	XP_011510033.1:p.Trp10575Ter
XM_017004819.1:c.57767G>A (TTN)	XP_016860308.1:p.Trp19256Ter
XM_017004820.1:c.53165G>A (TTN)	XP_016860309.1:p.Trp17722Ter
XM_017004821.1:c.53162G>A (TTN)	XP_016860310.1:p.Trp17721Ter
XM_017004822.1:c.50204G>A (TTN)	XP_016860311.1:p.Trp16735Ter
XM_017004823.1:c.31820G>A (TTN)	XP_016860312.1:p.Trp10607Ter
XM_024453094.1:c.53315G>A (TTN)	XP_024308862.1:p.Trp17772Ter
XM_024453095.1:c.53312G>A (TTN)	XP_024308863.1:p.Trp17771Ter
XM_024453096.1:c.52745G>A (TTN)	XP_024308864.1:p.Trp17582Ter
XM_024453097.1:c.50087G>A (TTN)	XP_024308865.1:p.Trp16696Ter
XM_024453098.1:c.50006G>A (TTN)	XP_024308866.1:p.Trp16669Ter
XM_024453099.1:c.31769G>A (TTN)	XP_024308867.1:p.Trp10590Ter
XM_024453100.1:c.21623G>A (TTN)	XP_024308868.1:p.Trp7208Ter