Canonical Allele Identifier: CA349650457

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632524A>G , CM000664.2:g.178632524A>G	GRCh38
NC_000002.11:g.179497251A>G , CM000664.1:g.179497251A>G	GRCh37
NC_000002.10:g.179205496A>G	NCBI36
NG_011618.3:g.203279T>C , LRG_391:g.203279T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.43480+2T>C MANE Select	NP_001254479.2:n.43480+2T>C
ENST00000589042.5:c.43480+2T>C MANE Select	ENSP00000467141.1:n.43480+2T>C
NM_001256850.1:c.38557+2T>C	NP_001243779.1:n.38557+2T>C
NM_003319.4:c.16285+2T>C	NP_003310.4:n.16285+2T>C
NM_133378.4:c.35776+2T>C	NP_596869.4:n.35776+2T>C
NM_133432.3:c.16660+2T>C	NP_597676.3:n.16660+2T>C
NM_133437.4:c.16861+2T>C	NP_597681.4:n.16861+2T>C
ENST00000342175.10:c.16861+2T>C	ENSP00000340554.6:n.16861+2T>C
ENST00000342175.11:c.16861+2T>C	ENSP00000340554.6:n.16861+2T>C
ENST00000342992.10:c.35776+2T>C	ENSP00000343764.6:n.35776+2T>C
ENST00000342992.11:c.35776+2T>C	ENSP00000343764.6:n.35776+2T>C
ENST00000359218.10:c.16660+2T>C	ENSP00000352154.5:n.16660+2T>C
ENST00000359218.9:c.16660+2T>C	ENSP00000352154.5:n.16660+2T>C
ENST00000460472.6:c.16285+2T>C	ENSP00000434586.1:n.16285+2T>C
ENST00000591111.5:c.38557+2T>C	ENSP00000465570.1:n.38557+2T>C
ENST00000615779.4:c.38557+2T>C	ENSP00000483597.1:n.38557+2T>C
XM_011511729.1:c.42577+2T>C	XP_011510031.1:n.42577+2T>C
XM_011511730.1:c.16471+2T>C	XP_011510032.1:n.16471+2T>C
XM_011511731.1:c.16330+2T>C	XP_011510033.1:n.16330+2T>C
XM_017004819.1:c.42373+2T>C	XP_016860308.1:n.42373+2T>C
XM_017004820.1:c.37771+2T>C	XP_016860309.1:n.37771+2T>C
XM_017004821.1:c.37768+2T>C	XP_016860310.1:n.37768+2T>C
XM_017004822.1:c.34810+2T>C	XP_016860311.1:n.34810+2T>C
XM_017004823.1:c.16426+2T>C	XP_016860312.1:n.16426+2T>C
XM_024453094.1:c.37921+2T>C	XP_024308862.1:n.37921+2T>C
XM_024453095.1:c.37918+2T>C	XP_024308863.1:n.37918+2T>C
XM_024453096.1:c.37351+2T>C	XP_024308864.1:n.37351+2T>C
XM_024453097.1:c.34693+2T>C	XP_024308865.1:n.34693+2T>C
XM_024453098.1:c.34612+2T>C	XP_024308866.1:n.34612+2T>C
XM_024453099.1:c.16375+2T>C	XP_024308867.1:n.16375+2T>C
XM_024453100.1:c.6229+2T>C	XP_024308868.1:n.6229+2T>C