Canonical Allele Identifier: CA430277954
Community Standard Title: NM_001267550.2(TTN):c.41319T>G (p.Leu13773=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636408A>C , CM000664.2:g.178636408A>C GRCh38
NC_000002.11:g.179501135A>C , CM000664.1:g.179501135A>C GRCh37
NC_000002.10:g.179209380A>C NCBI36
NG_011618.3:g.199395T>G , LRG_391:g.199395T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41319T>G MANE Select NP_001254479.2:p.Leu13773=
ENST00000589042.5:c.41319T>G MANE Select ENSP00000467141.1:p.Leu13773=
NM_001256850.1:c.36396T>G NP_001243779.1:p.Leu12132=
NM_003319.4:c.14124T>G NP_003310.4:p.Leu4708=
NM_133378.4:c.33615T>G NP_596869.4:p.Leu11205=
NM_133432.3:c.14499T>G NP_597676.3:p.Leu4833=
NM_133437.4:c.14700T>G NP_597681.4:p.Leu4900=
ENST00000342175.10:c.14700T>G ENSP00000340554.6:p.Leu4900=
ENST00000342175.11:c.14700T>G ENSP00000340554.6:p.Leu4900=
ENST00000342992.10:c.33615T>G ENSP00000343764.6:p.Leu11205=
ENST00000342992.11:c.33615T>G ENSP00000343764.6:p.Leu11205=
ENST00000359218.10:c.14499T>G ENSP00000352154.5:p.Leu4833=
ENST00000359218.9:c.14499T>G ENSP00000352154.5:p.Leu4833=
ENST00000460472.6:c.14124T>G ENSP00000434586.1:p.Leu4708=
ENST00000591111.5:c.36396T>G ENSP00000465570.1:p.Leu12132=
ENST00000615779.4:c.36396T>G ENSP00000483597.1:p.Leu12132=
XM_011511729.1:c.40416T>G XP_011510031.1:p.Leu13472=
XM_011511730.1:c.14310T>G XP_011510032.1:p.Leu4770=
XM_011511731.1:c.14169T>G XP_011510033.1:p.Leu4723=
XM_017004819.1:c.40212T>G XP_016860308.1:p.Leu13404=
XM_017004820.1:c.35610T>G XP_016860309.1:p.Leu11870=
XM_017004821.1:c.35607T>G XP_016860310.1:p.Leu11869=
XM_017004822.1:c.32649T>G XP_016860311.1:p.Leu10883=
XM_017004823.1:c.14265T>G XP_016860312.1:p.Leu4755=
XM_024453094.1:c.35760T>G XP_024308862.1:p.Leu11920=
XM_024453095.1:c.35757T>G XP_024308863.1:p.Leu11919=
XM_024453096.1:c.35190T>G XP_024308864.1:p.Leu11730=
XM_024453097.1:c.32532T>G XP_024308865.1:p.Leu10844=
XM_024453098.1:c.32451T>G XP_024308866.1:p.Leu10817=
XM_024453099.1:c.14214T>G XP_024308867.1:p.Leu4738=
XM_024453100.1:c.4068T>G XP_024308868.1:p.Leu1356=