Canonical Allele Identifier: CA349427936

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467712
• ClinVar RCV Id: RCV000536222 ; RCV000621057
• dbSNP Id: rs1553504950
• MyVariant Identifiers: chr2:g.179402365A>C (hg19) ; chr2:g.178537638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537638A>C , CM000664.2:g.178537638A>C	GRCh38
NC_000002.11:g.179402365A>C , CM000664.1:g.179402365A>C	GRCh37
NC_000002.10:g.179110611A>C	NCBI36
NG_011618.3:g.298165T>G , LRG_391:g.298165T>G
NG_051363.1:g.19812A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91865T>G (TTN)	ENSP00000343764.6:p.Leu30622Arg
ENST00000342175.11:c.72950T>G (TTN)	ENSP00000340554.6:p.Leu24317Arg
ENST00000359218.10:c.72749T>G (TTN)	ENSP00000352154.5:p.Leu24250Arg
ENST00000342175.10:c.72950T>G (TTN)	ENSP00000340554.6:p.Leu24317Arg
ENST00000342992.10:c.91865T>G (TTN)	ENSP00000343764.6:p.Leu30622Arg
ENST00000359218.9:c.72749T>G (TTN)	ENSP00000352154.5:p.Leu24250Arg
ENST00000460472.6:c.72374T>G (TTN)	ENSP00000434586.1:p.Leu24125Arg
ENST00000589042.5:c.99569T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu33190Arg
ENST00000591111.5:c.94646T>G (TTN)	ENSP00000465570.1:p.Leu31549Arg
ENST00000615779.4:c.94646T>G (TTN)	ENSP00000483597.1:p.Leu31549Arg
NM_001256850.1:c.94646T>G (TTN)	NP_001243779.1:p.Leu31549Arg
NM_001267550.2:c.99569T>G (TTN) MANE Select	NP_001254479.2:p.Leu33190Arg
NM_003319.4:c.72374T>G (TTN)	NP_003310.4:p.Leu24125Arg
NM_133378.4:c.91865T>G (TTN)	NP_596869.4:p.Leu30622Arg
NM_133432.3:c.72749T>G (TTN)	NP_597676.3:p.Leu24250Arg
NM_133437.4:c.72950T>G (TTN)	NP_597681.4:p.Leu24317Arg
NR_038271.1:n.446+14002A>C (TTN-AS1)
NR_038272.1:n.594A>C (TTN-AS1)
XM_011511729.1:c.98666T>G (TTN)	XP_011510031.1:p.Leu32889Arg
XM_011511730.1:c.72560T>G (TTN)	XP_011510032.1:p.Leu24187Arg
XM_011511731.1:c.72419T>G (TTN)	XP_011510033.1:p.Leu24140Arg
XM_017004819.1:c.98462T>G (TTN)	XP_016860308.1:p.Leu32821Arg
XM_017004820.1:c.93860T>G (TTN)	XP_016860309.1:p.Leu31287Arg
XM_017004821.1:c.93857T>G (TTN)	XP_016860310.1:p.Leu31286Arg
XM_017004822.1:c.90899T>G (TTN)	XP_016860311.1:p.Leu30300Arg
XM_017004823.1:c.72515T>G (TTN)	XP_016860312.1:p.Leu24172Arg
XM_024453094.1:c.94010T>G (TTN)	XP_024308862.1:p.Leu31337Arg
XM_024453095.1:c.94007T>G (TTN)	XP_024308863.1:p.Leu31336Arg
XM_024453096.1:c.93440T>G (TTN)	XP_024308864.1:p.Leu31147Arg
XM_024453097.1:c.90782T>G (TTN)	XP_024308865.1:p.Leu30261Arg
XM_024453098.1:c.90701T>G (TTN)	XP_024308866.1:p.Leu30234Arg
XM_024453099.1:c.72464T>G (TTN)	XP_024308867.1:p.Leu24155Arg
XM_024453100.1:c.62318T>G (TTN)	XP_024308868.1:p.Leu20773Arg