Canonical Allele Identifier: CA1995796
Community Standard Title: NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631187C>T , CM000664.2:g.178631187C>T GRCh38
NC_000002.11:g.179495914C>T , CM000664.1:g.179495914C>T GRCh37
NC_000002.10:g.179204159C>T NCBI36
NG_011618.3:g.204616G>A , LRG_391:g.204616G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43861G>A MANE Select NP_001254479.2:p.Asp14621Asn
ENST00000589042.5:c.43861G>A MANE Select ENSP00000467141.1:p.Asp14621Asn
NM_001256850.1:c.38938G>A NP_001243779.1:p.Asp12980Asn
NM_003319.4:c.16666G>A NP_003310.4:p.Asp5556Asn
NM_133378.4:c.36157G>A NP_596869.4:p.Asp12053Asn
NM_133432.3:c.17041G>A NP_597676.3:p.Asp5681Asn
NM_133437.4:c.17242G>A NP_597681.4:p.Asp5748Asn
ENST00000342175.10:c.17242G>A ENSP00000340554.6:p.Asp5748Asn
ENST00000342175.11:c.17242G>A ENSP00000340554.6:p.Asp5748Asn
ENST00000342992.10:c.36157G>A ENSP00000343764.6:p.Asp12053Asn
ENST00000342992.11:c.36157G>A ENSP00000343764.6:p.Asp12053Asn
ENST00000359218.10:c.17041G>A ENSP00000352154.5:p.Asp5681Asn
ENST00000359218.9:c.17041G>A ENSP00000352154.5:p.Asp5681Asn
ENST00000460472.6:c.16666G>A ENSP00000434586.1:p.Asp5556Asn
ENST00000591111.5:c.38938G>A ENSP00000465570.1:p.Asp12980Asn
ENST00000615779.4:c.38938G>A ENSP00000483597.1:p.Asp12980Asn
XM_011511729.1:c.42958G>A XP_011510031.1:p.Asp14320Asn
XM_011511730.1:c.16852G>A XP_011510032.1:p.Asp5618Asn
XM_011511731.1:c.16711G>A XP_011510033.1:p.Asp5571Asn
XM_017004819.1:c.42754G>A XP_016860308.1:p.Asp14252Asn
XM_017004820.1:c.38152G>A XP_016860309.1:p.Asp12718Asn
XM_017004821.1:c.38149G>A XP_016860310.1:p.Asp12717Asn
XM_017004822.1:c.35191G>A XP_016860311.1:p.Asp11731Asn
XM_017004823.1:c.16807G>A XP_016860312.1:p.Asp5603Asn
XM_024453094.1:c.38302G>A XP_024308862.1:p.Asp12768Asn
XM_024453095.1:c.38299G>A XP_024308863.1:p.Asp12767Asn
XM_024453096.1:c.37732G>A XP_024308864.1:p.Asp12578Asn
XM_024453097.1:c.35074G>A XP_024308865.1:p.Asp11692Asn
XM_024453098.1:c.34993G>A XP_024308866.1:p.Asp11665Asn
XM_024453099.1:c.16756G>A XP_024308867.1:p.Asp5586Asn
XM_024453100.1:c.6610G>A XP_024308868.1:p.Asp2204Asn