Canonical Allele Identifier: CA1995103

Linked Data

ClinVar Variation Id: 264057
dbSNP Id: rs373305832

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618241G>A , CM000664.2:g.178618241G>A GRCh38
NC_000002.11:g.179482968G>A , CM000664.1:g.179482968G>A GRCh37
NC_000002.10:g.179191213G>A NCBI36
NG_011618.3:g.217562C>T , LRG_391:g.217562C>T
NG_051363.1:g.100415G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.20598C>T ENSP00000340554.6:p.Gly6866=
ENST00000359218.10:n.20397C>T ENSP00000352154.5:p.Gly6799=
ENST00000342175.10:c.20598C>T ENSP00000340554.6:p.Gly6866=
ENST00000342992.10:c.39513C>T ENSP00000343764.6:p.Gly13171=
ENST00000359218.9:c.20397C>T ENSP00000352154.5:p.Gly6799=
ENST00000460472.6:c.20022C>T ENSP00000434586.1:p.Gly6674=
ENST00000589042.5:c.47217C>T (TTN) MANE Select ENSP00000467141.1:p.Gly15739=
ENST00000591111.5:c.42294C>T ENSP00000465570.1:p.Gly14098=
ENST00000615779.4:c.42294C>T ENSP00000483597.1:p.Gly14098=
NM_001256850.1:c.42294C>T (TTN) NP_001243779.1:p.Gly14098=
NM_001267550.2:c.47217C>T (TTN) MANE Select NP_001254479.2:p.Gly15739=
NM_003319.4:c.20022C>T (TTN) NP_003310.4:p.Gly6674=
NM_133378.4:c.39513C>T (TTN) NP_596869.4:p.Gly13171=
NM_133432.3:c.20397C>T (TTN) NP_597676.3:p.Gly6799=
NM_133437.4:c.20598C>T (TTN) NP_597681.4:p.Gly6866=
NR_038271.1:n.1605-1512G>A (TTN-AS1)
XM_011511729.1:c.46314C>T (TTN) XP_011510031.1:p.Gly15438=
XM_011511730.1:c.20208C>T (TTN) XP_011510032.1:p.Gly6736=
XM_011511731.1:c.20067C>T (TTN) XP_011510033.1:p.Gly6689=
XM_017004819.1:c.46110C>T (TTN) XP_016860308.1:p.Gly15370=
XM_017004820.1:c.41508C>T (TTN) XP_016860309.1:p.Gly13836=
XM_017004821.1:c.41505C>T (TTN) XP_016860310.1:p.Gly13835=
XM_017004822.1:c.38547C>T (TTN) XP_016860311.1:p.Gly12849=
XM_017004823.1:c.20163C>T (TTN) XP_016860312.1:p.Gly6721=
XM_024453094.1:c.41658C>T (TTN) XP_024308862.1:p.Gly13886=
XM_024453095.1:c.41655C>T (TTN) XP_024308863.1:p.Gly13885=
XM_024453096.1:c.41088C>T (TTN) XP_024308864.1:p.Gly13696=
XM_024453097.1:c.38430C>T (TTN) XP_024308865.1:p.Gly12810=
XM_024453098.1:c.38349C>T (TTN) XP_024308866.1:p.Gly12783=
XM_024453099.1:c.20112C>T (TTN) XP_024308867.1:p.Gly6704=
XM_024453100.1:c.9966C>T (TTN) XP_024308868.1:p.Gly3322=