Canonical Allele Identifier: CA349411427

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396793A>G (hg19) ; chr2:g.178532066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532066A>G , CM000664.2:g.178532066A>G	GRCh38
NC_000002.11:g.179396793A>G , CM000664.1:g.179396793A>G	GRCh37
NC_000002.10:g.179105039A>G	NCBI36
NG_011618.3:g.303737T>C , LRG_391:g.303737T>C
NG_051363.1:g.14240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96845T>C (TTN)	ENSP00000343764.6:p.Leu32282Ser
ENST00000342175.11:c.77930T>C (TTN)	ENSP00000340554.6:p.Leu25977Ser
ENST00000359218.10:c.77729T>C (TTN)	ENSP00000352154.5:p.Leu25910Ser
ENST00000342175.10:c.77930T>C (TTN)	ENSP00000340554.6:p.Leu25977Ser
ENST00000342992.10:c.96845T>C (TTN)	ENSP00000343764.6:p.Leu32282Ser
ENST00000359218.9:c.77729T>C (TTN)	ENSP00000352154.5:p.Leu25910Ser
ENST00000460472.6:c.77354T>C (TTN)	ENSP00000434586.1:p.Leu25785Ser
ENST00000589042.5:c.104549T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu34850Ser
ENST00000591111.5:c.99626T>C (TTN)	ENSP00000465570.1:p.Leu33209Ser
ENST00000615779.4:c.99626T>C (TTN)	ENSP00000483597.1:p.Leu33209Ser
NM_001256850.1:c.99626T>C (TTN)	NP_001243779.1:p.Leu33209Ser
NM_001267550.2:c.104549T>C (TTN) MANE Select	NP_001254479.2:p.Leu34850Ser
NM_003319.4:c.77354T>C (TTN)	NP_003310.4:p.Leu25785Ser
NM_133378.4:c.96845T>C (TTN)	NP_596869.4:p.Leu32282Ser
NM_133432.3:c.77729T>C (TTN)	NP_597676.3:p.Leu25910Ser
NM_133437.4:c.77930T>C (TTN)	NP_597681.4:p.Leu25977Ser
NR_038271.1:n.446+8430A>G (TTN-AS1)
NR_038272.1:n.220-3666A>G (TTN-AS1)
XM_011511729.1:c.103646T>C (TTN)	XP_011510031.1:p.Leu34549Ser
XM_011511730.1:c.77540T>C (TTN)	XP_011510032.1:p.Leu25847Ser
XM_011511731.1:c.77399T>C (TTN)	XP_011510033.1:p.Leu25800Ser
XM_017004819.1:c.103442T>C (TTN)	XP_016860308.1:p.Leu34481Ser
XM_017004820.1:c.98840T>C (TTN)	XP_016860309.1:p.Leu32947Ser
XM_017004821.1:c.98837T>C (TTN)	XP_016860310.1:p.Leu32946Ser
XM_017004822.1:c.95879T>C (TTN)	XP_016860311.1:p.Leu31960Ser
XM_017004823.1:c.77495T>C (TTN)	XP_016860312.1:p.Leu25832Ser
XM_024453094.1:c.98990T>C (TTN)	XP_024308862.1:p.Leu32997Ser
XM_024453095.1:c.98987T>C (TTN)	XP_024308863.1:p.Leu32996Ser
XM_024453096.1:c.98420T>C (TTN)	XP_024308864.1:p.Leu32807Ser
XM_024453097.1:c.95762T>C (TTN)	XP_024308865.1:p.Leu31921Ser
XM_024453098.1:c.95681T>C (TTN)	XP_024308866.1:p.Leu31894Ser
XM_024453099.1:c.77444T>C (TTN)	XP_024308867.1:p.Leu25815Ser
XM_024453100.1:c.67298T>C (TTN)	XP_024308868.1:p.Leu22433Ser