Canonical Allele Identifier: CA349618369

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482803G>C (hg19) ; chr2:g.178618076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618076G>C , CM000664.2:g.178618076G>C	GRCh38
NC_000002.11:g.179482803G>C , CM000664.1:g.179482803G>C	GRCh37
NC_000002.10:g.179191048G>C	NCBI36
NG_011618.3:g.217727C>G , LRG_391:g.217727C>G
NG_051363.1:g.100250G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39571C>G (TTN)	ENSP00000343764.6:p.Pro13191Ala
ENST00000342175.11:c.20656C>G (TTN)	ENSP00000340554.6:p.Pro6886Ala
ENST00000359218.10:c.20455C>G (TTN)	ENSP00000352154.5:p.Pro6819Ala
ENST00000342175.10:c.20656C>G (TTN)	ENSP00000340554.6:p.Pro6886Ala
ENST00000342992.10:c.39571C>G (TTN)	ENSP00000343764.6:p.Pro13191Ala
ENST00000359218.9:c.20455C>G (TTN)	ENSP00000352154.5:p.Pro6819Ala
ENST00000460472.6:c.20080C>G (TTN)	ENSP00000434586.1:p.Pro6694Ala
ENST00000589042.5:c.47275C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro15759Ala
ENST00000591111.5:c.42352C>G (TTN)	ENSP00000465570.1:p.Pro14118Ala
ENST00000615779.4:c.42352C>G (TTN)	ENSP00000483597.1:p.Pro14118Ala
NM_001256850.1:c.42352C>G (TTN)	NP_001243779.1:p.Pro14118Ala
NM_001267550.2:c.47275C>G (TTN) MANE Select	NP_001254479.2:p.Pro15759Ala
NM_003319.4:c.20080C>G (TTN)	NP_003310.4:p.Pro6694Ala
NM_133378.4:c.39571C>G (TTN)	NP_596869.4:p.Pro13191Ala
NM_133432.3:c.20455C>G (TTN)	NP_597676.3:p.Pro6819Ala
NM_133437.4:c.20656C>G (TTN)	NP_597681.4:p.Pro6886Ala
NR_038271.1:n.1605-1677G>C (TTN-AS1)
XM_011511729.1:c.46372C>G (TTN)	XP_011510031.1:p.Pro15458Ala
XM_011511730.1:c.20266C>G (TTN)	XP_011510032.1:p.Pro6756Ala
XM_011511731.1:c.20125C>G (TTN)	XP_011510033.1:p.Pro6709Ala
XM_017004819.1:c.46168C>G (TTN)	XP_016860308.1:p.Pro15390Ala
XM_017004820.1:c.41566C>G (TTN)	XP_016860309.1:p.Pro13856Ala
XM_017004821.1:c.41563C>G (TTN)	XP_016860310.1:p.Pro13855Ala
XM_017004822.1:c.38605C>G (TTN)	XP_016860311.1:p.Pro12869Ala
XM_017004823.1:c.20221C>G (TTN)	XP_016860312.1:p.Pro6741Ala
XM_024453094.1:c.41716C>G (TTN)	XP_024308862.1:p.Pro13906Ala
XM_024453095.1:c.41713C>G (TTN)	XP_024308863.1:p.Pro13905Ala
XM_024453096.1:c.41146C>G (TTN)	XP_024308864.1:p.Pro13716Ala
XM_024453097.1:c.38488C>G (TTN)	XP_024308865.1:p.Pro12830Ala
XM_024453098.1:c.38407C>G (TTN)	XP_024308866.1:p.Pro12803Ala
XM_024453099.1:c.20170C>G (TTN)	XP_024308867.1:p.Pro6724Ala
XM_024453100.1:c.10024C>G (TTN)	XP_024308868.1:p.Pro3342Ala