Canonical Allele Identifier: CA349423110

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444030C>G (hg19) ; chr2:g.178579303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579303C>G , CM000664.2:g.178579303C>G	GRCh38
NC_000002.11:g.179444030C>G , CM000664.1:g.179444030C>G	GRCh37
NC_000002.10:g.179152276C>G	NCBI36
NG_011618.3:g.256500G>C , LRG_391:g.256500G>C
NG_051363.1:g.61477C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60023G>C (TTN)	ENSP00000343764.6:p.Gly20008Ala
ENST00000342175.11:c.41108G>C (TTN)	ENSP00000340554.6:p.Gly13703Ala
ENST00000359218.10:c.40907G>C (TTN)	ENSP00000352154.5:p.Gly13636Ala
ENST00000342175.10:c.41108G>C (TTN)	ENSP00000340554.6:p.Gly13703Ala
ENST00000342992.10:c.60023G>C (TTN)	ENSP00000343764.6:p.Gly20008Ala
ENST00000359218.9:c.40907G>C (TTN)	ENSP00000352154.5:p.Gly13636Ala
ENST00000460472.6:c.40532G>C (TTN)	ENSP00000434586.1:p.Gly13511Ala
ENST00000589042.5:c.67727G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly22576Ala
ENST00000591111.5:c.62804G>C (TTN)	ENSP00000465570.1:p.Gly20935Ala
ENST00000615779.4:c.62804G>C (TTN)	ENSP00000483597.1:p.Gly20935Ala
NM_001256850.1:c.62804G>C (TTN)	NP_001243779.1:p.Gly20935Ala
NM_001267550.2:c.67727G>C (TTN) MANE Select	NP_001254479.2:p.Gly22576Ala
NM_003319.4:c.40532G>C (TTN)	NP_003310.4:p.Gly13511Ala
NM_133378.4:c.60023G>C (TTN)	NP_596869.4:p.Gly20008Ala
NM_133432.3:c.40907G>C (TTN)	NP_597676.3:p.Gly13636Ala
NM_133437.4:c.41108G>C (TTN)	NP_597681.4:p.Gly13703Ala
NR_038271.1:n.596+7854C>G (TTN-AS1)
NR_038272.1:n.2044-3269C>G (TTN-AS1)
XM_011511729.1:c.66824G>C (TTN)	XP_011510031.1:p.Gly22275Ala
XM_011511730.1:c.40718G>C (TTN)	XP_011510032.1:p.Gly13573Ala
XM_011511731.1:c.40577G>C (TTN)	XP_011510033.1:p.Gly13526Ala
XM_017004819.1:c.66620G>C (TTN)	XP_016860308.1:p.Gly22207Ala
XM_017004820.1:c.62018G>C (TTN)	XP_016860309.1:p.Gly20673Ala
XM_017004821.1:c.62015G>C (TTN)	XP_016860310.1:p.Gly20672Ala
XM_017004822.1:c.59057G>C (TTN)	XP_016860311.1:p.Gly19686Ala
XM_017004823.1:c.40673G>C (TTN)	XP_016860312.1:p.Gly13558Ala
XM_024453094.1:c.62168G>C (TTN)	XP_024308862.1:p.Gly20723Ala
XM_024453095.1:c.62165G>C (TTN)	XP_024308863.1:p.Gly20722Ala
XM_024453096.1:c.61598G>C (TTN)	XP_024308864.1:p.Gly20533Ala
XM_024453097.1:c.58940G>C (TTN)	XP_024308865.1:p.Gly19647Ala
XM_024453098.1:c.58859G>C (TTN)	XP_024308866.1:p.Gly19620Ala
XM_024453099.1:c.40622G>C (TTN)	XP_024308867.1:p.Gly13541Ala
XM_024453100.1:c.30476G>C (TTN)	XP_024308868.1:p.Gly10159Ala