Canonical Allele Identifier: CA1034785
Gene: TBX15 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.118884844A>G
GRCh37 chr1:g.119427467A>G
Revel Score:
ENST00000344218 0.442
ENST00000207157 0.442
ENST00000369429 (MANE Select) 0.442
ENST00000449873 0.442
gnomAD v2:
1:119427467 A / G
gnomAD v3:
1:118884844 A / G
gnomAD v4:
chr1-118884844-A-G
Joint Max Group AF 0.00002555 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.0000237 (NFE)
dbSNP:
61730011
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000369429.5:c.1697T>C MANE Select ENSP00000358437.3:p.Met566Thr
ENST00000207157.7:c.1379T>C ENSP00000207157.3:p.Met460Thr
ENST00000369429.3:c.1697T>C ENSP00000358437.3:p.Met566Thr
ENST00000449873.5:c.881T>C ENSP00000398625.1:p.Met294Thr
NM_152380.2:c.1379T>C NP_689593.2:p.Met460Thr
XM_005271161.2:c.1796T>C XP_005271218.1:p.Met599Thr
XM_005271162.1:c.1697T>C XP_005271219.1:p.Met566Thr
XM_011542052.1:c.851T>C XP_011540354.1:p.Met284Thr
NM_001330677.1:c.1697T>C NP_001317606.1:p.Met566Thr
XM_005271161.4:c.1796T>C XP_005271218.1:p.Met599Thr
XM_011542052.2:c.851T>C XP_011540354.1:p.Met284Thr
NM_001330677.2:c.1697T>C MANE Select NP_001317606.1:p.Met566Thr
NM_152380.3:c.1379T>C NP_689593.2:p.Met460Thr
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