Canonical Allele Identifier: CA349405993

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395002G>A (hg19) ; chr2:g.178530275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530275G>A , CM000664.2:g.178530275G>A	GRCh38
NC_000002.11:g.179395002G>A , CM000664.1:g.179395002G>A	GRCh37
NC_000002.10:g.179103248G>A	NCBI36
NG_011618.3:g.305528C>T , LRG_391:g.305528C>T
NG_051363.1:g.12449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98636C>T (TTN)	ENSP00000343764.6:p.Pro32879Leu
ENST00000342175.11:c.79721C>T (TTN)	ENSP00000340554.6:p.Pro26574Leu
ENST00000359218.10:c.79520C>T (TTN)	ENSP00000352154.5:p.Pro26507Leu
ENST00000342175.10:c.79721C>T (TTN)	ENSP00000340554.6:p.Pro26574Leu
ENST00000342992.10:c.98636C>T (TTN)	ENSP00000343764.6:p.Pro32879Leu
ENST00000359218.9:c.79520C>T (TTN)	ENSP00000352154.5:p.Pro26507Leu
ENST00000460472.6:c.79145C>T (TTN)	ENSP00000434586.1:p.Pro26382Leu
ENST00000589042.5:c.106340C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro35447Leu
ENST00000591111.5:c.101417C>T (TTN)	ENSP00000465570.1:p.Pro33806Leu
ENST00000615779.4:c.101417C>T (TTN)	ENSP00000483597.1:p.Pro33806Leu
NM_001256850.1:c.101417C>T (TTN)	NP_001243779.1:p.Pro33806Leu
NM_001267550.2:c.106340C>T (TTN) MANE Select	NP_001254479.2:p.Pro35447Leu
NM_003319.4:c.79145C>T (TTN)	NP_003310.4:p.Pro26382Leu
NM_133378.4:c.98636C>T (TTN)	NP_596869.4:p.Pro32879Leu
NM_133432.3:c.79520C>T (TTN)	NP_597676.3:p.Pro26507Leu
NM_133437.4:c.79721C>T (TTN)	NP_597681.4:p.Pro26574Leu
NR_038271.1:n.446+6639G>A (TTN-AS1)
NR_038272.1:n.220-5457G>A (TTN-AS1)
XM_011511729.1:c.105437C>T (TTN)	XP_011510031.1:p.Pro35146Leu
XM_011511730.1:c.79331C>T (TTN)	XP_011510032.1:p.Pro26444Leu
XM_011511731.1:c.79190C>T (TTN)	XP_011510033.1:p.Pro26397Leu
XM_017004819.1:c.105233C>T (TTN)	XP_016860308.1:p.Pro35078Leu
XM_017004820.1:c.100631C>T (TTN)	XP_016860309.1:p.Pro33544Leu
XM_017004821.1:c.100628C>T (TTN)	XP_016860310.1:p.Pro33543Leu
XM_017004822.1:c.97670C>T (TTN)	XP_016860311.1:p.Pro32557Leu
XM_017004823.1:c.79286C>T (TTN)	XP_016860312.1:p.Pro26429Leu
XM_024453094.1:c.100781C>T (TTN)	XP_024308862.1:p.Pro33594Leu
XM_024453095.1:c.100778C>T (TTN)	XP_024308863.1:p.Pro33593Leu
XM_024453096.1:c.100211C>T (TTN)	XP_024308864.1:p.Pro33404Leu
XM_024453097.1:c.97553C>T (TTN)	XP_024308865.1:p.Pro32518Leu
XM_024453098.1:c.97472C>T (TTN)	XP_024308866.1:p.Pro32491Leu
XM_024453099.1:c.79235C>T (TTN)	XP_024308867.1:p.Pro26412Leu
XM_024453100.1:c.69089C>T (TTN)	XP_024308868.1:p.Pro23030Leu