Canonical Allele Identifier: CA430257592

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM6155126 ; COSM6155127 ; COSM6155128 ; COSM6155129
• MyVariant Identifiers: chr2:g.179439522G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574795G>C , CM000664.2:g.178574795G>C	GRCh38
NC_000002.11:g.179439522G>C , CM000664.1:g.179439522G>C	GRCh37
NC_000002.10:g.179147768G>C	NCBI36
NG_011618.3:g.261008C>G , LRG_391:g.261008C>G
NG_051363.1:g.56969G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63633C>G (TTN)	ENSP00000343764.6:p.Thr21211=
ENST00000342175.11:c.44718C>G (TTN)	ENSP00000340554.6:p.Thr14906=
ENST00000359218.10:c.44517C>G (TTN)	ENSP00000352154.5:p.Thr14839=
ENST00000342175.10:c.44718C>G (TTN)	ENSP00000340554.6:p.Thr14906=
ENST00000342992.10:c.63633C>G (TTN)	ENSP00000343764.6:p.Thr21211=
ENST00000359218.9:c.44517C>G (TTN)	ENSP00000352154.5:p.Thr14839=
ENST00000460472.6:c.44142C>G (TTN)	ENSP00000434586.1:p.Thr14714=
ENST00000589042.5:c.71337C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr23779=
ENST00000591111.5:c.66414C>G (TTN)	ENSP00000465570.1:p.Thr22138=
ENST00000615779.4:c.66414C>G (TTN)	ENSP00000483597.1:p.Thr22138=
NM_001256850.1:c.66414C>G (TTN)	NP_001243779.1:p.Thr22138=
NM_001267550.2:c.71337C>G (TTN) MANE Select	NP_001254479.2:p.Thr23779=
NM_003319.4:c.44142C>G (TTN)	NP_003310.4:p.Thr14714=
NM_133378.4:c.63633C>G (TTN)	NP_596869.4:p.Thr21211=
NM_133432.3:c.44517C>G (TTN)	NP_597676.3:p.Thr14839=
NM_133437.4:c.44718C>G (TTN)	NP_597681.4:p.Thr14906=
NR_038271.1:n.596+3346G>C (TTN-AS1)
NR_038272.1:n.2044-7777G>C (TTN-AS1)
XM_011511729.1:c.70434C>G (TTN)	XP_011510031.1:p.Thr23478=
XM_011511730.1:c.44328C>G (TTN)	XP_011510032.1:p.Thr14776=
XM_011511731.1:c.44187C>G (TTN)	XP_011510033.1:p.Thr14729=
XM_017004819.1:c.70230C>G (TTN)	XP_016860308.1:p.Thr23410=
XM_017004820.1:c.65628C>G (TTN)	XP_016860309.1:p.Thr21876=
XM_017004821.1:c.65625C>G (TTN)	XP_016860310.1:p.Thr21875=
XM_017004822.1:c.62667C>G (TTN)	XP_016860311.1:p.Thr20889=
XM_017004823.1:c.44283C>G (TTN)	XP_016860312.1:p.Thr14761=
XM_024453094.1:c.65778C>G (TTN)	XP_024308862.1:p.Thr21926=
XM_024453095.1:c.65775C>G (TTN)	XP_024308863.1:p.Thr21925=
XM_024453096.1:c.65208C>G (TTN)	XP_024308864.1:p.Thr21736=
XM_024453097.1:c.62550C>G (TTN)	XP_024308865.1:p.Thr20850=
XM_024453098.1:c.62469C>G (TTN)	XP_024308866.1:p.Thr20823=
XM_024453099.1:c.44232C>G (TTN)	XP_024308867.1:p.Thr14744=
XM_024453100.1:c.34086C>G (TTN)	XP_024308868.1:p.Thr11362=