Canonical Allele Identifier: CA349483600

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591118-G-C
• MyVariant Identifiers: chr2:g.179455845G>C (hg19) ; chr2:g.178591118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591118G>C , CM000664.2:g.178591118G>C	GRCh38
NC_000002.11:g.179455845G>C , CM000664.1:g.179455845G>C	GRCh37
NC_000002.10:g.179164091G>C	NCBI36
NG_011618.3:g.244685C>G , LRG_391:g.244685C>G
NG_051363.1:g.73292G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52903C>G (TTN)	ENSP00000343764.6:p.Pro17635Ala
ENST00000342175.11:c.33988C>G (TTN)	ENSP00000340554.6:p.Pro11330Ala
ENST00000359218.10:c.33787C>G (TTN)	ENSP00000352154.5:p.Pro11263Ala
ENST00000342175.10:c.33988C>G (TTN)	ENSP00000340554.6:p.Pro11330Ala
ENST00000342992.10:c.52903C>G (TTN)	ENSP00000343764.6:p.Pro17635Ala
ENST00000359218.9:c.33787C>G (TTN)	ENSP00000352154.5:p.Pro11263Ala
ENST00000460472.6:c.33412C>G (TTN)	ENSP00000434586.1:p.Pro11138Ala
ENST00000589042.5:c.60607C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro20203Ala
ENST00000591111.5:c.55684C>G (TTN)	ENSP00000465570.1:p.Pro18562Ala
ENST00000615779.4:c.55684C>G (TTN)	ENSP00000483597.1:p.Pro18562Ala
NM_001256850.1:c.55684C>G (TTN)	NP_001243779.1:p.Pro18562Ala
NM_001267550.2:c.60607C>G (TTN) MANE Select	NP_001254479.2:p.Pro20203Ala
NM_003319.4:c.33412C>G (TTN)	NP_003310.4:p.Pro11138Ala
NM_133378.4:c.52903C>G (TTN)	NP_596869.4:p.Pro17635Ala
NM_133432.3:c.33787C>G (TTN)	NP_597676.3:p.Pro11263Ala
NM_133437.4:c.33988C>G (TTN)	NP_597681.4:p.Pro11330Ala
NR_038271.1:n.597-6478G>C (TTN-AS1)
NR_038272.1:n.3189-21G>C (TTN-AS1)
XM_011511729.1:c.59704C>G (TTN)	XP_011510031.1:p.Pro19902Ala
XM_011511730.1:c.33598C>G (TTN)	XP_011510032.1:p.Pro11200Ala
XM_011511731.1:c.33457C>G (TTN)	XP_011510033.1:p.Pro11153Ala
XM_017004819.1:c.59500C>G (TTN)	XP_016860308.1:p.Pro19834Ala
XM_017004820.1:c.54898C>G (TTN)	XP_016860309.1:p.Pro18300Ala
XM_017004821.1:c.54895C>G (TTN)	XP_016860310.1:p.Pro18299Ala
XM_017004822.1:c.51937C>G (TTN)	XP_016860311.1:p.Pro17313Ala
XM_017004823.1:c.33553C>G (TTN)	XP_016860312.1:p.Pro11185Ala
XM_024453094.1:c.55048C>G (TTN)	XP_024308862.1:p.Pro18350Ala
XM_024453095.1:c.55045C>G (TTN)	XP_024308863.1:p.Pro18349Ala
XM_024453096.1:c.54478C>G (TTN)	XP_024308864.1:p.Pro18160Ala
XM_024453097.1:c.51820C>G (TTN)	XP_024308865.1:p.Pro17274Ala
XM_024453098.1:c.51739C>G (TTN)	XP_024308866.1:p.Pro17247Ala
XM_024453099.1:c.33502C>G (TTN)	XP_024308867.1:p.Pro11168Ala
XM_024453100.1:c.23356C>G (TTN)	XP_024308868.1:p.Pro7786Ala