Canonical Allele Identifier: CA349406781

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1191749869
• MyVariant Identifiers: chr2:g.179395167G>C (hg19) ; chr2:g.178530440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530440G>C , CM000664.2:g.178530440G>C	GRCh38
NC_000002.11:g.179395167G>C , CM000664.1:g.179395167G>C	GRCh37
NC_000002.10:g.179103413G>C	NCBI36
NG_011618.3:g.305363C>G , LRG_391:g.305363C>G
NG_051363.1:g.12614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98471C>G (TTN)	ENSP00000343764.6:p.Thr32824Ser
ENST00000342175.11:c.79556C>G (TTN)	ENSP00000340554.6:p.Thr26519Ser
ENST00000359218.10:c.79355C>G (TTN)	ENSP00000352154.5:p.Thr26452Ser
ENST00000342175.10:c.79556C>G (TTN)	ENSP00000340554.6:p.Thr26519Ser
ENST00000342992.10:c.98471C>G (TTN)	ENSP00000343764.6:p.Thr32824Ser
ENST00000359218.9:c.79355C>G (TTN)	ENSP00000352154.5:p.Thr26452Ser
ENST00000460472.6:c.78980C>G (TTN)	ENSP00000434586.1:p.Thr26327Ser
ENST00000589042.5:c.106175C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35392Ser
ENST00000591111.5:c.101252C>G (TTN)	ENSP00000465570.1:p.Thr33751Ser
ENST00000615779.4:c.101252C>G (TTN)	ENSP00000483597.1:p.Thr33751Ser
NM_001256850.1:c.101252C>G (TTN)	NP_001243779.1:p.Thr33751Ser
NM_001267550.2:c.106175C>G (TTN) MANE Select	NP_001254479.2:p.Thr35392Ser
NM_003319.4:c.78980C>G (TTN)	NP_003310.4:p.Thr26327Ser
NM_133378.4:c.98471C>G (TTN)	NP_596869.4:p.Thr32824Ser
NM_133432.3:c.79355C>G (TTN)	NP_597676.3:p.Thr26452Ser
NM_133437.4:c.79556C>G (TTN)	NP_597681.4:p.Thr26519Ser
NR_038271.1:n.446+6804G>C (TTN-AS1)
NR_038272.1:n.220-5292G>C (TTN-AS1)
XM_011511729.1:c.105272C>G (TTN)	XP_011510031.1:p.Thr35091Ser
XM_011511730.1:c.79166C>G (TTN)	XP_011510032.1:p.Thr26389Ser
XM_011511731.1:c.79025C>G (TTN)	XP_011510033.1:p.Thr26342Ser
XM_017004819.1:c.105068C>G (TTN)	XP_016860308.1:p.Thr35023Ser
XM_017004820.1:c.100466C>G (TTN)	XP_016860309.1:p.Thr33489Ser
XM_017004821.1:c.100463C>G (TTN)	XP_016860310.1:p.Thr33488Ser
XM_017004822.1:c.97505C>G (TTN)	XP_016860311.1:p.Thr32502Ser
XM_017004823.1:c.79121C>G (TTN)	XP_016860312.1:p.Thr26374Ser
XM_024453094.1:c.100616C>G (TTN)	XP_024308862.1:p.Thr33539Ser
XM_024453095.1:c.100613C>G (TTN)	XP_024308863.1:p.Thr33538Ser
XM_024453096.1:c.100046C>G (TTN)	XP_024308864.1:p.Thr33349Ser
XM_024453097.1:c.97388C>G (TTN)	XP_024308865.1:p.Thr32463Ser
XM_024453098.1:c.97307C>G (TTN)	XP_024308866.1:p.Thr32436Ser
XM_024453099.1:c.79070C>G (TTN)	XP_024308867.1:p.Thr26357Ser
XM_024453100.1:c.68924C>G (TTN)	XP_024308868.1:p.Thr22975Ser