Canonical Allele Identifier: CA349672055

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577896G>C , CM000664.2:g.178577896G>C GRCh38
NC_000002.11:g.179442623G>C , CM000664.1:g.179442623G>C GRCh37
NC_000002.10:g.179150869G>C NCBI36
NG_011618.3:g.257907C>G , LRG_391:g.257907C>G
NG_051363.1:g.60070G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60826C>G (TTN) ENSP00000343764.6:p.Pro20276Ala
ENST00000342175.11:c.41911C>G (TTN) ENSP00000340554.6:p.Pro13971Ala
ENST00000359218.10:c.41710C>G (TTN) ENSP00000352154.5:p.Pro13904Ala
ENST00000342175.10:c.41911C>G (TTN) ENSP00000340554.6:p.Pro13971Ala
ENST00000342992.10:c.60826C>G (TTN) ENSP00000343764.6:p.Pro20276Ala
ENST00000359218.9:c.41710C>G (TTN) ENSP00000352154.5:p.Pro13904Ala
ENST00000460472.6:c.41335C>G (TTN) ENSP00000434586.1:p.Pro13779Ala
ENST00000589042.5:c.68530C>G (TTN) MANE Select ENSP00000467141.1:p.Pro22844Ala
ENST00000591111.5:c.63607C>G (TTN) ENSP00000465570.1:p.Pro21203Ala
ENST00000615779.4:c.63607C>G (TTN) ENSP00000483597.1:p.Pro21203Ala
NM_001256850.1:c.63607C>G (TTN) NP_001243779.1:p.Pro21203Ala
NM_001267550.2:c.68530C>G (TTN) MANE Select NP_001254479.2:p.Pro22844Ala
NM_003319.4:c.41335C>G (TTN) NP_003310.4:p.Pro13779Ala
NM_133378.4:c.60826C>G (TTN) NP_596869.4:p.Pro20276Ala
NM_133432.3:c.41710C>G (TTN) NP_597676.3:p.Pro13904Ala
NM_133437.4:c.41911C>G (TTN) NP_597681.4:p.Pro13971Ala
NR_038271.1:n.596+6447G>C (TTN-AS1)
NR_038272.1:n.2044-4676G>C (TTN-AS1)
XM_011511729.1:c.67627C>G (TTN) XP_011510031.1:p.Pro22543Ala
XM_011511730.1:c.41521C>G (TTN) XP_011510032.1:p.Pro13841Ala
XM_011511731.1:c.41380C>G (TTN) XP_011510033.1:p.Pro13794Ala
XM_017004819.1:c.67423C>G (TTN) XP_016860308.1:p.Pro22475Ala
XM_017004820.1:c.62821C>G (TTN) XP_016860309.1:p.Pro20941Ala
XM_017004821.1:c.62818C>G (TTN) XP_016860310.1:p.Pro20940Ala
XM_017004822.1:c.59860C>G (TTN) XP_016860311.1:p.Pro19954Ala
XM_017004823.1:c.41476C>G (TTN) XP_016860312.1:p.Pro13826Ala
XM_024453094.1:c.62971C>G (TTN) XP_024308862.1:p.Pro20991Ala
XM_024453095.1:c.62968C>G (TTN) XP_024308863.1:p.Pro20990Ala
XM_024453096.1:c.62401C>G (TTN) XP_024308864.1:p.Pro20801Ala
XM_024453097.1:c.59743C>G (TTN) XP_024308865.1:p.Pro19915Ala
XM_024453098.1:c.59662C>G (TTN) XP_024308866.1:p.Pro19888Ala
XM_024453099.1:c.41425C>G (TTN) XP_024308867.1:p.Pro13809Ala
XM_024453100.1:c.31279C>G (TTN) XP_024308868.1:p.Pro10427Ala