Canonical Allele Identifier: CA349411486

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396826C>A (hg19) ; chr2:g.178532099C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532099C>A , CM000664.2:g.178532099C>A	GRCh38
NC_000002.11:g.179396826C>A , CM000664.1:g.179396826C>A	GRCh37
NC_000002.10:g.179105072C>A	NCBI36
NG_011618.3:g.303704G>T , LRG_391:g.303704G>T
NG_051363.1:g.14273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96812G>T (TTN)	ENSP00000343764.6:p.Arg32271Leu
ENST00000342175.11:c.77897G>T (TTN)	ENSP00000340554.6:p.Arg25966Leu
ENST00000359218.10:c.77696G>T (TTN)	ENSP00000352154.5:p.Arg25899Leu
ENST00000342175.10:c.77897G>T (TTN)	ENSP00000340554.6:p.Arg25966Leu
ENST00000342992.10:c.96812G>T (TTN)	ENSP00000343764.6:p.Arg32271Leu
ENST00000359218.9:c.77696G>T (TTN)	ENSP00000352154.5:p.Arg25899Leu
ENST00000460472.6:c.77321G>T (TTN)	ENSP00000434586.1:p.Arg25774Leu
ENST00000589042.5:c.104516G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg34839Leu
ENST00000591111.5:c.99593G>T (TTN)	ENSP00000465570.1:p.Arg33198Leu
ENST00000615779.4:c.99593G>T (TTN)	ENSP00000483597.1:p.Arg33198Leu
NM_001256850.1:c.99593G>T (TTN)	NP_001243779.1:p.Arg33198Leu
NM_001267550.2:c.104516G>T (TTN) MANE Select	NP_001254479.2:p.Arg34839Leu
NM_003319.4:c.77321G>T (TTN)	NP_003310.4:p.Arg25774Leu
NM_133378.4:c.96812G>T (TTN)	NP_596869.4:p.Arg32271Leu
NM_133432.3:c.77696G>T (TTN)	NP_597676.3:p.Arg25899Leu
NM_133437.4:c.77897G>T (TTN)	NP_597681.4:p.Arg25966Leu
NR_038271.1:n.446+8463C>A (TTN-AS1)
NR_038272.1:n.220-3633C>A (TTN-AS1)
XM_011511729.1:c.103613G>T (TTN)	XP_011510031.1:p.Arg34538Leu
XM_011511730.1:c.77507G>T (TTN)	XP_011510032.1:p.Arg25836Leu
XM_011511731.1:c.77366G>T (TTN)	XP_011510033.1:p.Arg25789Leu
XM_017004819.1:c.103409G>T (TTN)	XP_016860308.1:p.Arg34470Leu
XM_017004820.1:c.98807G>T (TTN)	XP_016860309.1:p.Arg32936Leu
XM_017004821.1:c.98804G>T (TTN)	XP_016860310.1:p.Arg32935Leu
XM_017004822.1:c.95846G>T (TTN)	XP_016860311.1:p.Arg31949Leu
XM_017004823.1:c.77462G>T (TTN)	XP_016860312.1:p.Arg25821Leu
XM_024453094.1:c.98957G>T (TTN)	XP_024308862.1:p.Arg32986Leu
XM_024453095.1:c.98954G>T (TTN)	XP_024308863.1:p.Arg32985Leu
XM_024453096.1:c.98387G>T (TTN)	XP_024308864.1:p.Arg32796Leu
XM_024453097.1:c.95729G>T (TTN)	XP_024308865.1:p.Arg31910Leu
XM_024453098.1:c.95648G>T (TTN)	XP_024308866.1:p.Arg31883Leu
XM_024453099.1:c.77411G>T (TTN)	XP_024308867.1:p.Arg25804Leu
XM_024453100.1:c.67265G>T (TTN)	XP_024308868.1:p.Arg22422Leu