Canonical Allele Identifier: CA349427849
Community Standard Title: NM_001267550.2(TTN):c.99609A>T (p.Lys33203Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537598T>A , CM000664.2:g.178537598T>A GRCh38
NC_000002.11:g.179402325T>A , CM000664.1:g.179402325T>A GRCh37
NC_000002.10:g.179110571T>A NCBI36
NG_011618.3:g.298205A>T , LRG_391:g.298205A>T
NG_051363.1:g.19772T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99609A>T (TTN) MANE Select NP_001254479.2:p.Lys33203Asn
ENST00000589042.5:c.99609A>T (TTN) MANE Select ENSP00000467141.1:p.Lys33203Asn
NM_001256850.1:c.94686A>T (TTN) NP_001243779.1:p.Lys31562Asn
NM_003319.4:c.72414A>T (TTN) NP_003310.4:p.Lys24138Asn
NM_133378.4:c.91905A>T (TTN) NP_596869.4:p.Lys30635Asn
NM_133432.3:c.72789A>T (TTN) NP_597676.3:p.Lys24263Asn
NM_133437.4:c.72990A>T (TTN) NP_597681.4:p.Lys24330Asn
NR_038271.1:n.446+13962T>A (TTN-AS1)
NR_038272.1:n.554T>A (TTN-AS1)
ENST00000342175.10:c.72990A>T (TTN) ENSP00000340554.6:p.Lys24330Asn
ENST00000342175.11:c.72990A>T (TTN) ENSP00000340554.6:p.Lys24330Asn
ENST00000342992.10:c.91905A>T (TTN) ENSP00000343764.6:p.Lys30635Asn
ENST00000342992.11:c.91905A>T (TTN) ENSP00000343764.6:p.Lys30635Asn
ENST00000359218.10:c.72789A>T (TTN) ENSP00000352154.5:p.Lys24263Asn
ENST00000359218.9:c.72789A>T (TTN) ENSP00000352154.5:p.Lys24263Asn
ENST00000460472.6:c.72414A>T (TTN) ENSP00000434586.1:p.Lys24138Asn
ENST00000591111.5:c.94686A>T (TTN) ENSP00000465570.1:p.Lys31562Asn
ENST00000615779.4:c.94686A>T (TTN) ENSP00000483597.1:p.Lys31562Asn
XM_011511729.1:c.98706A>T (TTN) XP_011510031.1:p.Lys32902Asn
XM_011511730.1:c.72600A>T (TTN) XP_011510032.1:p.Lys24200Asn
XM_011511731.1:c.72459A>T (TTN) XP_011510033.1:p.Lys24153Asn
XM_017004819.1:c.98502A>T (TTN) XP_016860308.1:p.Lys32834Asn
XM_017004820.1:c.93900A>T (TTN) XP_016860309.1:p.Lys31300Asn
XM_017004821.1:c.93897A>T (TTN) XP_016860310.1:p.Lys31299Asn
XM_017004822.1:c.90939A>T (TTN) XP_016860311.1:p.Lys30313Asn
XM_017004823.1:c.72555A>T (TTN) XP_016860312.1:p.Lys24185Asn
XM_024453094.1:c.94050A>T (TTN) XP_024308862.1:p.Lys31350Asn
XM_024453095.1:c.94047A>T (TTN) XP_024308863.1:p.Lys31349Asn
XM_024453096.1:c.93480A>T (TTN) XP_024308864.1:p.Lys31160Asn
XM_024453097.1:c.90822A>T (TTN) XP_024308865.1:p.Lys30274Asn
XM_024453098.1:c.90741A>T (TTN) XP_024308866.1:p.Lys30247Asn
XM_024453099.1:c.72504A>T (TTN) XP_024308867.1:p.Lys24168Asn
XM_024453100.1:c.62358A>T (TTN) XP_024308868.1:p.Lys20786Asn