Canonical Allele Identifier: CA1034784

Gene: TBX15

Linked Data

• ClinVar Variation Id: 594474
• ClinVar RCV Id: RCV001597211 ; RCV003338773
• dbSNP Id: rs61730011
• ExAC: 1:119427467 A / C
• gnomAD v2: 1-119427467-A-C
• gnomAD v3: 1-118884844-A-C
• gnomAD v4: 1-118884844-A-C
• MyVariant Identifiers: chr1:g.119427467A>C (hg19) ; chr1:g.118884844A>C (hg38)

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