Canonical Allele Identifier: CA349622475

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483517A>C (hg19) ; chr2:g.178618790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618790A>C , CM000664.2:g.178618790A>C	GRCh38
NC_000002.11:g.179483517A>C , CM000664.1:g.179483517A>C	GRCh37
NC_000002.10:g.179191762A>C	NCBI36
NG_011618.3:g.217013T>G , LRG_391:g.217013T>G
NG_051363.1:g.100964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39056T>G (TTN)	ENSP00000343764.6:p.Met13019Arg
ENST00000342175.11:c.20141T>G (TTN)	ENSP00000340554.6:p.Met6714Arg
ENST00000359218.10:c.19940T>G (TTN)	ENSP00000352154.5:p.Met6647Arg
ENST00000342175.10:c.20141T>G (TTN)	ENSP00000340554.6:p.Met6714Arg
ENST00000342992.10:c.39056T>G (TTN)	ENSP00000343764.6:p.Met13019Arg
ENST00000359218.9:c.19940T>G (TTN)	ENSP00000352154.5:p.Met6647Arg
ENST00000460472.6:c.19565T>G (TTN)	ENSP00000434586.1:p.Met6522Arg
ENST00000589042.5:c.46760T>G (TTN) MANE Select	ENSP00000467141.1:p.Met15587Arg
ENST00000591111.5:c.41837T>G (TTN)	ENSP00000465570.1:p.Met13946Arg
ENST00000615779.4:c.41837T>G (TTN)	ENSP00000483597.1:p.Met13946Arg
NM_001256850.1:c.41837T>G (TTN)	NP_001243779.1:p.Met13946Arg
NM_001267550.2:c.46760T>G (TTN) MANE Select	NP_001254479.2:p.Met15587Arg
NM_003319.4:c.19565T>G (TTN)	NP_003310.4:p.Met6522Arg
NM_133378.4:c.39056T>G (TTN)	NP_596869.4:p.Met13019Arg
NM_133432.3:c.19940T>G (TTN)	NP_597676.3:p.Met6647Arg
NM_133437.4:c.20141T>G (TTN)	NP_597681.4:p.Met6714Arg
NR_038271.1:n.1605-963A>C (TTN-AS1)
XM_011511729.1:c.45857T>G (TTN)	XP_011510031.1:p.Met15286Arg
XM_011511730.1:c.19751T>G (TTN)	XP_011510032.1:p.Met6584Arg
XM_011511731.1:c.19610T>G (TTN)	XP_011510033.1:p.Met6537Arg
XM_017004819.1:c.45653T>G (TTN)	XP_016860308.1:p.Met15218Arg
XM_017004820.1:c.41051T>G (TTN)	XP_016860309.1:p.Met13684Arg
XM_017004821.1:c.41048T>G (TTN)	XP_016860310.1:p.Met13683Arg
XM_017004822.1:c.38090T>G (TTN)	XP_016860311.1:p.Met12697Arg
XM_017004823.1:c.19706T>G (TTN)	XP_016860312.1:p.Met6569Arg
XM_024453094.1:c.41201T>G (TTN)	XP_024308862.1:p.Met13734Arg
XM_024453095.1:c.41198T>G (TTN)	XP_024308863.1:p.Met13733Arg
XM_024453096.1:c.40631T>G (TTN)	XP_024308864.1:p.Met13544Arg
XM_024453097.1:c.37973T>G (TTN)	XP_024308865.1:p.Met12658Arg
XM_024453098.1:c.37892T>G (TTN)	XP_024308866.1:p.Met12631Arg
XM_024453099.1:c.19655T>G (TTN)	XP_024308867.1:p.Met6552Arg
XM_024453100.1:c.9509T>G (TTN)	XP_024308868.1:p.Met3170Arg