Canonical Allele Identifier: CA1034865

Gene: TBX15

Linked Data

• ClinVar Variation Id: 289694
• ClinVar RCV Id: RCV000378295 ; RCV001270113 ; RCV003949934 ; RCV003151011
• dbSNP Id: rs144291418
• ExAC: 1:119427839 C / T
• gnomAD v2: 1-119427839-C-T
• gnomAD v3: 1-118885216-C-T
• gnomAD v4: 1-118885216-C-T
• MyVariant Identifiers: chr1:g.119427839C>T (hg19) ; chr1:g.118885216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.118885216C>T , CM000663.2:g.118885216C>T	GRCh38
NC_000001.10:g.119427839C>T , CM000663.1:g.119427839C>T	GRCh37
NC_000001.9:g.119229362C>T	NCBI36
NG_013361.1:g.109341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369429.5:c.1325G>A MANE Select	ENSP00000358437.3:p.Arg442Lys
ENST00000207157.7:c.1007G>A	ENSP00000207157.3:p.Arg336Lys
ENST00000369429.3:c.1325G>A	ENSP00000358437.3:p.Arg442Lys
ENST00000449873.5:c.509G>A	ENSP00000398625.1:p.Arg170Lys
NM_152380.2:c.1007G>A	NP_689593.2:p.Arg336Lys
XM_005271161.2:c.1424G>A	XP_005271218.1:p.Arg475Lys
XM_005271162.1:c.1325G>A	XP_005271219.1:p.Arg442Lys
XM_011542052.1:c.479G>A	XP_011540354.1:p.Arg160Lys
NM_001330677.1:c.1325G>A	NP_001317606.1:p.Arg442Lys
XM_005271161.4:c.1424G>A	XP_005271218.1:p.Arg475Lys
XM_011542052.2:c.479G>A	XP_011540354.1:p.Arg160Lys
NM_001330677.2:c.1325G>A MANE Select	NP_001317606.1:p.Arg442Lys
NM_152380.3:c.1007G>A	NP_689593.2:p.Arg336Lys