Canonical Allele Identifier: CA16042363

Linked Data

ClinVar Variation Id: 373190
ClinVar RCV Id: RCV000414356
dbSNP Id: rs1057518275

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557800C>T , CM000664.2:g.178557800C>T GRCh38
NC_000002.11:g.179422527C>T , CM000664.1:g.179422527C>T GRCh37
NC_000002.10:g.179130773C>T NCBI36
NG_011618.3:g.278003G>A , LRG_391:g.278003G>A
NG_051363.1:g.39974C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.60935G>A ENSP00000340554.6:p.Trp20312Ter
ENST00000359218.10:n.60734G>A ENSP00000352154.5:p.Trp20245Ter
ENST00000342175.10:c.60935G>A ENSP00000340554.6:p.Trp20312Ter
ENST00000342992.10:c.79850G>A ENSP00000343764.6:p.Trp26617Ter
ENST00000359218.9:c.60734G>A ENSP00000352154.5:p.Trp20245Ter
ENST00000460472.6:c.60359G>A ENSP00000434586.1:p.Trp20120Ter
ENST00000589042.5:c.87554G>A MANE Select ENSP00000467141.1:p.Trp29185Ter
ENST00000591111.5:c.82631G>A ENSP00000465570.1:p.Trp27544Ter
ENST00000615779.4:c.82631G>A ENSP00000483597.1:p.Trp27544Ter
NM_001256850.1:c.82631G>A (TTN) NP_001243779.1:p.Trp27544Ter
NM_001267550.2:c.87554G>A (TTN) MANE Select NP_001254479.2:p.Trp29185Ter
NM_003319.4:c.60359G>A (TTN) NP_003310.4:p.Trp20120Ter
NM_133378.4:c.79850G>A (TTN) NP_596869.4:p.Trp26617Ter
NM_133432.3:c.60734G>A (TTN) NP_597676.3:p.Trp20245Ter
NM_133437.4:c.60935G>A (TTN) NP_597681.4:p.Trp20312Ter
NR_038271.1:n.447-13500C>T (TTN-AS1)
NR_038272.1:n.2043+15439C>T (TTN-AS1)
XM_011511729.1:c.86651G>A (TTN) XP_011510031.1:p.Trp28884Ter
XM_011511730.1:c.60545G>A (TTN) XP_011510032.1:p.Trp20182Ter
XM_011511731.1:c.60404G>A (TTN) XP_011510033.1:p.Trp20135Ter
XM_017004819.1:c.86447G>A (TTN) XP_016860308.1:p.Trp28816Ter
XM_017004820.1:c.81845G>A (TTN) XP_016860309.1:p.Trp27282Ter
XM_017004821.1:c.81842G>A (TTN) XP_016860310.1:p.Trp27281Ter
XM_017004822.1:c.78884G>A (TTN) XP_016860311.1:p.Trp26295Ter
XM_017004823.1:c.60500G>A (TTN) XP_016860312.1:p.Trp20167Ter
XM_024453094.1:c.81995G>A (TTN) XP_024308862.1:p.Trp27332Ter
XM_024453095.1:c.81992G>A (TTN) XP_024308863.1:p.Trp27331Ter
XM_024453096.1:c.81425G>A (TTN) XP_024308864.1:p.Trp27142Ter
XM_024453097.1:c.78767G>A (TTN) XP_024308865.1:p.Trp26256Ter
XM_024453098.1:c.78686G>A (TTN) XP_024308866.1:p.Trp26229Ter
XM_024453099.1:c.60449G>A (TTN) XP_024308867.1:p.Trp20150Ter
XM_024453100.1:c.50303G>A (TTN) XP_024308868.1:p.Trp16768Ter