Canonical Allele Identifier: CA349581324

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429339G>C (hg19) ; chr2:g.178564612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564612G>C , CM000664.2:g.178564612G>C	GRCh38
NC_000002.11:g.179429339G>C , CM000664.1:g.179429339G>C	GRCh37
NC_000002.10:g.179137585G>C	NCBI36
NG_011618.3:g.271191C>G , LRG_391:g.271191C>G
NG_051363.1:g.46786G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73816C>G (TTN)	ENSP00000343764.6:p.Pro24606Ala
ENST00000342175.11:c.54901C>G (TTN)	ENSP00000340554.6:p.Pro18301Ala
ENST00000359218.10:c.54700C>G (TTN)	ENSP00000352154.5:p.Pro18234Ala
ENST00000342175.10:c.54901C>G (TTN)	ENSP00000340554.6:p.Pro18301Ala
ENST00000342992.10:c.73816C>G (TTN)	ENSP00000343764.6:p.Pro24606Ala
ENST00000359218.9:c.54700C>G (TTN)	ENSP00000352154.5:p.Pro18234Ala
ENST00000460472.6:c.54325C>G (TTN)	ENSP00000434586.1:p.Pro18109Ala
ENST00000589042.5:c.81520C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro27174Ala
ENST00000591111.5:c.76597C>G (TTN)	ENSP00000465570.1:p.Pro25533Ala
ENST00000615779.4:c.76597C>G (TTN)	ENSP00000483597.1:p.Pro25533Ala
NM_001256850.1:c.76597C>G (TTN)	NP_001243779.1:p.Pro25533Ala
NM_001267550.2:c.81520C>G (TTN) MANE Select	NP_001254479.2:p.Pro27174Ala
NM_003319.4:c.54325C>G (TTN)	NP_003310.4:p.Pro18109Ala
NM_133378.4:c.73816C>G (TTN)	NP_596869.4:p.Pro24606Ala
NM_133432.3:c.54700C>G (TTN)	NP_597676.3:p.Pro18234Ala
NM_133437.4:c.54901C>G (TTN)	NP_597681.4:p.Pro18301Ala
NR_038271.1:n.447-6688G>C (TTN-AS1)
NR_038272.1:n.2044-17960G>C (TTN-AS1)
XM_011511729.1:c.80617C>G (TTN)	XP_011510031.1:p.Pro26873Ala
XM_011511730.1:c.54511C>G (TTN)	XP_011510032.1:p.Pro18171Ala
XM_011511731.1:c.54370C>G (TTN)	XP_011510033.1:p.Pro18124Ala
XM_017004819.1:c.80413C>G (TTN)	XP_016860308.1:p.Pro26805Ala
XM_017004820.1:c.75811C>G (TTN)	XP_016860309.1:p.Pro25271Ala
XM_017004821.1:c.75808C>G (TTN)	XP_016860310.1:p.Pro25270Ala
XM_017004822.1:c.72850C>G (TTN)	XP_016860311.1:p.Pro24284Ala
XM_017004823.1:c.54466C>G (TTN)	XP_016860312.1:p.Pro18156Ala
XM_024453094.1:c.75961C>G (TTN)	XP_024308862.1:p.Pro25321Ala
XM_024453095.1:c.75958C>G (TTN)	XP_024308863.1:p.Pro25320Ala
XM_024453096.1:c.75391C>G (TTN)	XP_024308864.1:p.Pro25131Ala
XM_024453097.1:c.72733C>G (TTN)	XP_024308865.1:p.Pro24245Ala
XM_024453098.1:c.72652C>G (TTN)	XP_024308866.1:p.Pro24218Ala
XM_024453099.1:c.54415C>G (TTN)	XP_024308867.1:p.Pro18139Ala
XM_024453100.1:c.44269C>G (TTN)	XP_024308868.1:p.Pro14757Ala