Canonical Allele Identifier: CA1254387
Gene: TNN HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.175098587C>A
GRCh37 chr1:g.175067723C>A
Revel Score:
ENST00000239462 (MANE Select) 0.270
gnomAD v2:
1:175067723 C / A
gnomAD v3:
1:175098587 C / A
gnomAD v4:
chr1-175098587-C-A
Joint Max Group AF 0.00002314 (NFE)
Exomes Max Group AF 0.0000237 (NFE)
ClinVar RCV:
RCV004080781
ClinVar Variation:
2216884
dbSNP:
147445406
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.175098587C>A , CM000663.2:g.175098587C>A GRCh38
NC_000001.10:g.175067723C>A , CM000663.1:g.175067723C>A GRCh37
NC_000001.9:g.173334346C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239462.9:c.2111C>A MANE Select ENSP00000239462.4:p.Ala704Asp
ENST00000239462.8:c.2111C>A ENSP00000239462.4:p.Ala704Asp
ENST00000621086.1:c.1588+4334C>A ENSP00000480895.1:n.1588+4334C>A
ENST00000622870.4:c.1665+1094C>A ENSP00000481259.1:n.1665+1094C>A
NM_022093.1:c.2111C>A NP_071376.1:p.Ala704Asp
XM_011509867.1:c.2111C>A XP_011508169.1:p.Ala704Asp
XM_011509868.1:c.2111C>A XP_011508170.1:p.Ala704Asp
XM_011509869.1:c.2111C>A XP_011508171.1:p.Ala704Asp
XM_011509870.1:c.2111C>A XP_011508172.1:p.Ala704Asp
XM_017002048.1:c.2165C>A XP_016857537.1:p.Ala722Asp
XM_017002049.1:c.2165C>A XP_016857538.1:p.Ala722Asp
NM_022093.2:c.2111C>A MANE Select NP_071376.1:p.Ala704Asp
Search 100 bp 5'
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