Canonical Allele Identifier: CA16042421

Linked Data

ClinVar Variation Id: 372831
ClinVar RCV Id: RCV000414745
dbSNP Id: rs1057518009

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584668C>A , CM000664.2:g.178584668C>A GRCh38
NC_000002.11:g.179449395C>A , CM000664.1:g.179449395C>A GRCh37
NC_000002.10:g.179157641C>A NCBI36
NG_011618.3:g.251135G>T , LRG_391:g.251135G>T
NG_051363.1:g.66842C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.38353+1G>T ENSP00000340554.6:p.=
ENST00000359218.10:n.38152+1G>T ENSP00000352154.5:p.=
ENST00000342175.10:c.38353+1G>T ENSP00000340554.6:p.=
ENST00000342992.10:c.57268+1G>T ENSP00000343764.6:p.=
ENST00000359218.9:c.38152+1G>T ENSP00000352154.5:p.=
ENST00000460472.6:c.37777+1G>T ENSP00000434586.1:p.=
ENST00000589042.5:c.64972+1G>T MANE Select ENSP00000467141.1:p.=
ENST00000591111.5:c.60049+1G>T ENSP00000465570.1:p.=
ENST00000615779.4:c.60049+1G>T ENSP00000483597.1:p.=
NM_001256850.1:c.60049+1G>T (TTN) NP_001243779.1:p.=
NM_001267550.2:c.64972+1G>T (TTN) MANE Select NP_001254479.2:p.=
NM_003319.4:c.37777+1G>T (TTN) NP_003310.4:p.=
NM_133378.4:c.57268+1G>T (TTN) NP_596869.4:p.=
NM_133432.3:c.38152+1G>T (TTN) NP_597676.3:p.=
NM_133437.4:c.38353+1G>T (TTN) NP_597681.4:p.=
NR_038271.1:n.597-12928C>A (TTN-AS1)
NR_038272.1:n.2863C>A (TTN-AS1)
XM_011511729.1:c.64069+1G>T (TTN) XP_011510031.1:p.=
XM_011511730.1:c.37963+1G>T (TTN) XP_011510032.1:p.=
XM_011511731.1:c.37822+1G>T (TTN) XP_011510033.1:p.=
XM_017004819.1:c.63865+1G>T (TTN) XP_016860308.1:p.=
XM_017004820.1:c.59263+1G>T (TTN) XP_016860309.1:p.=
XM_017004821.1:c.59260+1G>T (TTN) XP_016860310.1:p.=
XM_017004822.1:c.56302+1G>T (TTN) XP_016860311.1:p.=
XM_017004823.1:c.37918+1G>T (TTN) XP_016860312.1:p.=
XM_024453094.1:c.59413+1G>T (TTN) XP_024308862.1:p.=
XM_024453095.1:c.59410+1G>T (TTN) XP_024308863.1:p.=
XM_024453096.1:c.58843+1G>T (TTN) XP_024308864.1:p.=
XM_024453097.1:c.56185+1G>T (TTN) XP_024308865.1:p.=
XM_024453098.1:c.56104+1G>T (TTN) XP_024308866.1:p.=
XM_024453099.1:c.37867+1G>T (TTN) XP_024308867.1:p.=
XM_024453100.1:c.27721+1G>T (TTN) XP_024308868.1:p.=