Canonical Allele Identifier: CA349664840

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467426
• ClinVar RCV Id: RCV000547446
• dbSNP Id: rs1553614524
• MyVariant Identifiers: chr2:g.179440739G>C (hg19) ; chr2:g.178576012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576012G>C , CM000664.2:g.178576012G>C	GRCh38
NC_000002.11:g.179440739G>C , CM000664.1:g.179440739G>C	GRCh37
NC_000002.10:g.179148985G>C	NCBI36
NG_011618.3:g.259791C>G , LRG_391:g.259791C>G
NG_051363.1:g.58186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62416C>G (TTN)	ENSP00000343764.6:p.Pro20806Ala
ENST00000342175.11:c.43501C>G (TTN)	ENSP00000340554.6:p.Pro14501Ala
ENST00000359218.10:c.43300C>G (TTN)	ENSP00000352154.5:p.Pro14434Ala
ENST00000342175.10:c.43501C>G (TTN)	ENSP00000340554.6:p.Pro14501Ala
ENST00000342992.10:c.62416C>G (TTN)	ENSP00000343764.6:p.Pro20806Ala
ENST00000359218.9:c.43300C>G (TTN)	ENSP00000352154.5:p.Pro14434Ala
ENST00000460472.6:c.42925C>G (TTN)	ENSP00000434586.1:p.Pro14309Ala
ENST00000589042.5:c.70120C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro23374Ala
ENST00000591111.5:c.65197C>G (TTN)	ENSP00000465570.1:p.Pro21733Ala
ENST00000615779.4:c.65197C>G (TTN)	ENSP00000483597.1:p.Pro21733Ala
NM_001256850.1:c.65197C>G (TTN)	NP_001243779.1:p.Pro21733Ala
NM_001267550.2:c.70120C>G (TTN) MANE Select	NP_001254479.2:p.Pro23374Ala
NM_003319.4:c.42925C>G (TTN)	NP_003310.4:p.Pro14309Ala
NM_133378.4:c.62416C>G (TTN)	NP_596869.4:p.Pro20806Ala
NM_133432.3:c.43300C>G (TTN)	NP_597676.3:p.Pro14434Ala
NM_133437.4:c.43501C>G (TTN)	NP_597681.4:p.Pro14501Ala
NR_038271.1:n.596+4563G>C (TTN-AS1)
NR_038272.1:n.2044-6560G>C (TTN-AS1)
XM_011511729.1:c.69217C>G (TTN)	XP_011510031.1:p.Pro23073Ala
XM_011511730.1:c.43111C>G (TTN)	XP_011510032.1:p.Pro14371Ala
XM_011511731.1:c.42970C>G (TTN)	XP_011510033.1:p.Pro14324Ala
XM_017004819.1:c.69013C>G (TTN)	XP_016860308.1:p.Pro23005Ala
XM_017004820.1:c.64411C>G (TTN)	XP_016860309.1:p.Pro21471Ala
XM_017004821.1:c.64408C>G (TTN)	XP_016860310.1:p.Pro21470Ala
XM_017004822.1:c.61450C>G (TTN)	XP_016860311.1:p.Pro20484Ala
XM_017004823.1:c.43066C>G (TTN)	XP_016860312.1:p.Pro14356Ala
XM_024453094.1:c.64561C>G (TTN)	XP_024308862.1:p.Pro21521Ala
XM_024453095.1:c.64558C>G (TTN)	XP_024308863.1:p.Pro21520Ala
XM_024453096.1:c.63991C>G (TTN)	XP_024308864.1:p.Pro21331Ala
XM_024453097.1:c.61333C>G (TTN)	XP_024308865.1:p.Pro20445Ala
XM_024453098.1:c.61252C>G (TTN)	XP_024308866.1:p.Pro20418Ala
XM_024453099.1:c.43015C>G (TTN)	XP_024308867.1:p.Pro14339Ala
XM_024453100.1:c.32869C>G (TTN)	XP_024308868.1:p.Pro10957Ala