Canonical Allele Identifier: CA349511605

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417281T>A (hg19) ; chr2:g.178552554T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552554T>A , CM000664.2:g.178552554T>A	GRCh38
NC_000002.11:g.179417281T>A , CM000664.1:g.179417281T>A	GRCh37
NC_000002.10:g.179125527T>A	NCBI36
NG_011618.3:g.283249A>T , LRG_391:g.283249A>T
NG_051363.1:g.34728T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82642A>T (TTN)	ENSP00000343764.6:p.Thr27548Ser
ENST00000342175.11:c.63727A>T (TTN)	ENSP00000340554.6:p.Thr21243Ser
ENST00000359218.10:c.63526A>T (TTN)	ENSP00000352154.5:p.Thr21176Ser
ENST00000342175.10:c.63727A>T (TTN)	ENSP00000340554.6:p.Thr21243Ser
ENST00000342992.10:c.82642A>T (TTN)	ENSP00000343764.6:p.Thr27548Ser
ENST00000359218.9:c.63526A>T (TTN)	ENSP00000352154.5:p.Thr21176Ser
ENST00000460472.6:c.63151A>T (TTN)	ENSP00000434586.1:p.Thr21051Ser
ENST00000589042.5:c.90346A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr30116Ser
ENST00000591111.5:c.85423A>T (TTN)	ENSP00000465570.1:p.Thr28475Ser
ENST00000615779.4:c.85423A>T (TTN)	ENSP00000483597.1:p.Thr28475Ser
NM_001256850.1:c.85423A>T (TTN)	NP_001243779.1:p.Thr28475Ser
NM_001267550.2:c.90346A>T (TTN) MANE Select	NP_001254479.2:p.Thr30116Ser
NM_003319.4:c.63151A>T (TTN)	NP_003310.4:p.Thr21051Ser
NM_133378.4:c.82642A>T (TTN)	NP_596869.4:p.Thr27548Ser
NM_133432.3:c.63526A>T (TTN)	NP_597676.3:p.Thr21176Ser
NM_133437.4:c.63727A>T (TTN)	NP_597681.4:p.Thr21243Ser
NR_038271.1:n.447-18746T>A (TTN-AS1)
NR_038272.1:n.2043+10193T>A (TTN-AS1)
XM_011511729.1:c.89443A>T (TTN)	XP_011510031.1:p.Thr29815Ser
XM_011511730.1:c.63337A>T (TTN)	XP_011510032.1:p.Thr21113Ser
XM_011511731.1:c.63196A>T (TTN)	XP_011510033.1:p.Thr21066Ser
XM_017004819.1:c.89239A>T (TTN)	XP_016860308.1:p.Thr29747Ser
XM_017004820.1:c.84637A>T (TTN)	XP_016860309.1:p.Thr28213Ser
XM_017004821.1:c.84634A>T (TTN)	XP_016860310.1:p.Thr28212Ser
XM_017004822.1:c.81676A>T (TTN)	XP_016860311.1:p.Thr27226Ser
XM_017004823.1:c.63292A>T (TTN)	XP_016860312.1:p.Thr21098Ser
XM_024453094.1:c.84787A>T (TTN)	XP_024308862.1:p.Thr28263Ser
XM_024453095.1:c.84784A>T (TTN)	XP_024308863.1:p.Thr28262Ser
XM_024453096.1:c.84217A>T (TTN)	XP_024308864.1:p.Thr28073Ser
XM_024453097.1:c.81559A>T (TTN)	XP_024308865.1:p.Thr27187Ser
XM_024453098.1:c.81478A>T (TTN)	XP_024308866.1:p.Thr27160Ser
XM_024453099.1:c.63241A>T (TTN)	XP_024308867.1:p.Thr21081Ser
XM_024453100.1:c.53095A>T (TTN)	XP_024308868.1:p.Thr17699Ser