Canonical Allele Identifier: CA10611629

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332809
• ClinVar RCV Id: RCV000277954 ; RCV000298977 ; RCV000330712 ; RCV000357380 ; RCV000370160
• dbSNP Id: rs886055255
• MyVariant Identifiers: chr2:g.179449403G>C (hg19) ; chr2:g.178584676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584676G>C , CM000664.2:g.178584676G>C	GRCh38
NC_000002.11:g.179449403G>C , CM000664.1:g.179449403G>C	GRCh37
NC_000002.10:g.179157649G>C	NCBI36
NG_011618.3:g.251127C>G , LRG_391:g.251127C>G
NG_051363.1:g.66850G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57261C>G (TTN)	ENSP00000343764.6:p.Phe19087Leu
ENST00000342175.11:c.38346C>G (TTN)	ENSP00000340554.6:p.Phe12782Leu
ENST00000359218.10:c.38145C>G (TTN)	ENSP00000352154.5:p.Phe12715Leu
ENST00000342175.10:c.38346C>G (TTN)	ENSP00000340554.6:p.Phe12782Leu
ENST00000342992.10:c.57261C>G (TTN)	ENSP00000343764.6:p.Phe19087Leu
ENST00000359218.9:c.38145C>G (TTN)	ENSP00000352154.5:p.Phe12715Leu
ENST00000460472.6:c.37770C>G (TTN)	ENSP00000434586.1:p.Phe12590Leu
ENST00000589042.5:c.64965C>G (TTN) MANE Select	ENSP00000467141.1:p.Phe21655Leu
ENST00000591111.5:c.60042C>G (TTN)	ENSP00000465570.1:p.Phe20014Leu
ENST00000615779.4:c.60042C>G (TTN)	ENSP00000483597.1:p.Phe20014Leu
NM_001256850.1:c.60042C>G (TTN)	NP_001243779.1:p.Phe20014Leu
NM_001267550.2:c.64965C>G (TTN) MANE Select	NP_001254479.2:p.Phe21655Leu
NM_003319.4:c.37770C>G (TTN)	NP_003310.4:p.Phe12590Leu
NM_133378.4:c.57261C>G (TTN)	NP_596869.4:p.Phe19087Leu
NM_133432.3:c.38145C>G (TTN)	NP_597676.3:p.Phe12715Leu
NM_133437.4:c.38346C>G (TTN)	NP_597681.4:p.Phe12782Leu
NR_038271.1:n.597-12920G>C (TTN-AS1)
NR_038272.1:n.2871G>C (TTN-AS1)
XM_011511729.1:c.64062C>G (TTN)	XP_011510031.1:p.Phe21354Leu
XM_011511730.1:c.37956C>G (TTN)	XP_011510032.1:p.Phe12652Leu
XM_011511731.1:c.37815C>G (TTN)	XP_011510033.1:p.Phe12605Leu
XM_017004819.1:c.63858C>G (TTN)	XP_016860308.1:p.Phe21286Leu
XM_017004820.1:c.59256C>G (TTN)	XP_016860309.1:p.Phe19752Leu
XM_017004821.1:c.59253C>G (TTN)	XP_016860310.1:p.Phe19751Leu
XM_017004822.1:c.56295C>G (TTN)	XP_016860311.1:p.Phe18765Leu
XM_017004823.1:c.37911C>G (TTN)	XP_016860312.1:p.Phe12637Leu
XM_024453094.1:c.59406C>G (TTN)	XP_024308862.1:p.Phe19802Leu
XM_024453095.1:c.59403C>G (TTN)	XP_024308863.1:p.Phe19801Leu
XM_024453096.1:c.58836C>G (TTN)	XP_024308864.1:p.Phe19612Leu
XM_024453097.1:c.56178C>G (TTN)	XP_024308865.1:p.Phe18726Leu
XM_024453098.1:c.56097C>G (TTN)	XP_024308866.1:p.Phe18699Leu
XM_024453099.1:c.37860C>G (TTN)	XP_024308867.1:p.Phe12620Leu
XM_024453100.1:c.27714C>G (TTN)	XP_024308868.1:p.Phe9238Leu