Canonical Allele Identifier: CA1034784
Gene: TBX15 HGNC NCBI
COSMIC:
COSM4142249 (not active)
COSM4142250 (not active)
COSM4142251 (not active)
MyVariant.info:
GRCh38 chr1:g.118884844A>C
GRCh37 chr1:g.119427467A>C
Revel Score:
ENST00000344218 0.385
ENST00000207157 0.385
ENST00000369429 (MANE Select) 0.385
ENST00000449873 0.385
gnomAD v2:
1:119427467 A / C
gnomAD v3:
1:118884844 A / C
gnomAD v4:
chr1-118884844-A-C
Joint Max Group AF 0.09770976 (SAS)
Genomes Max Group AF 0.08947026 (SAS)
Exomes Max Group AF 0.0978123 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.118884844A>C , CM000663.2:g.118884844A>C GRCh38
NC_000001.10:g.119427467A>C , CM000663.1:g.119427467A>C GRCh37
NC_000001.9:g.119228990A>C NCBI36
NG_013361.1:g.109713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369429.5:c.1697T>G MANE Select ENSP00000358437.3:p.Met566Arg
ENST00000207157.7:c.1379T>G ENSP00000207157.3:p.Met460Arg
ENST00000369429.3:c.1697T>G ENSP00000358437.3:p.Met566Arg
ENST00000449873.5:c.881T>G ENSP00000398625.1:p.Met294Arg
NM_152380.2:c.1379T>G NP_689593.2:p.Met460Arg
XM_005271161.2:c.1796T>G XP_005271218.1:p.Met599Arg
XM_005271162.1:c.1697T>G XP_005271219.1:p.Met566Arg
XM_011542052.1:c.851T>G XP_011540354.1:p.Met284Arg
NM_001330677.1:c.1697T>G NP_001317606.1:p.Met566Arg
XM_005271161.4:c.1796T>G XP_005271218.1:p.Met599Arg
XM_011542052.2:c.851T>G XP_011540354.1:p.Met284Arg
NM_001330677.2:c.1697T>G MANE Select NP_001317606.1:p.Met566Arg
NM_152380.3:c.1379T>G NP_689593.2:p.Met460Arg
Search 100 bp 5'
Search 100 bp 3'