Canonical Allele Identifier: CA349434886

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178540072-C-T
• MyVariant Identifiers: chr2:g.179404799C>T (hg19) ; chr2:g.178540072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540072C>T , CM000664.2:g.178540072C>T	GRCh38
NC_000002.11:g.179404799C>T , CM000664.1:g.179404799C>T	GRCh37
NC_000002.10:g.179113045C>T	NCBI36
NG_011618.3:g.295731G>A , LRG_391:g.295731G>A
NG_051363.1:g.22246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90390G>A (TTN)	ENSP00000343764.6:p.Met30130Ile
ENST00000342175.11:c.71475G>A (TTN)	ENSP00000340554.6:p.Met23825Ile
ENST00000359218.10:c.71274G>A (TTN)	ENSP00000352154.5:p.Met23758Ile
ENST00000342175.10:c.71475G>A (TTN)	ENSP00000340554.6:p.Met23825Ile
ENST00000342992.10:c.90390G>A (TTN)	ENSP00000343764.6:p.Met30130Ile
ENST00000359218.9:c.71274G>A (TTN)	ENSP00000352154.5:p.Met23758Ile
ENST00000460472.6:c.70899G>A (TTN)	ENSP00000434586.1:p.Met23633Ile
ENST00000589042.5:c.98094G>A (TTN) MANE Select	ENSP00000467141.1:p.Met32698Ile
ENST00000591111.5:c.93171G>A (TTN)	ENSP00000465570.1:p.Met31057Ile
ENST00000615779.4:c.93171G>A (TTN)	ENSP00000483597.1:p.Met31057Ile
NM_001256850.1:c.93171G>A (TTN)	NP_001243779.1:p.Met31057Ile
NM_001267550.2:c.98094G>A (TTN) MANE Select	NP_001254479.2:p.Met32698Ile
NM_003319.4:c.70899G>A (TTN)	NP_003310.4:p.Met23633Ile
NM_133378.4:c.90390G>A (TTN)	NP_596869.4:p.Met30130Ile
NM_133432.3:c.71274G>A (TTN)	NP_597676.3:p.Met23758Ile
NM_133437.4:c.71475G>A (TTN)	NP_597681.4:p.Met23825Ile
NR_038271.1:n.446+16436C>T (TTN-AS1)
NR_038272.1:n.1841-35C>T (TTN-AS1)
XM_011511729.1:c.97191G>A (TTN)	XP_011510031.1:p.Met32397Ile
XM_011511730.1:c.71085G>A (TTN)	XP_011510032.1:p.Met23695Ile
XM_011511731.1:c.70944G>A (TTN)	XP_011510033.1:p.Met23648Ile
XM_017004819.1:c.96987G>A (TTN)	XP_016860308.1:p.Met32329Ile
XM_017004820.1:c.92385G>A (TTN)	XP_016860309.1:p.Met30795Ile
XM_017004821.1:c.92382G>A (TTN)	XP_016860310.1:p.Met30794Ile
XM_017004822.1:c.89424G>A (TTN)	XP_016860311.1:p.Met29808Ile
XM_017004823.1:c.71040G>A (TTN)	XP_016860312.1:p.Met23680Ile
XM_024453094.1:c.92535G>A (TTN)	XP_024308862.1:p.Met30845Ile
XM_024453095.1:c.92532G>A (TTN)	XP_024308863.1:p.Met30844Ile
XM_024453096.1:c.91965G>A (TTN)	XP_024308864.1:p.Met30655Ile
XM_024453097.1:c.89307G>A (TTN)	XP_024308865.1:p.Met29769Ile
XM_024453098.1:c.89226G>A (TTN)	XP_024308866.1:p.Met29742Ile
XM_024453099.1:c.70989G>A (TTN)	XP_024308867.1:p.Met23663Ile
XM_024453100.1:c.60843G>A (TTN)	XP_024308868.1:p.Met20281Ile