Canonical Allele Identifier: CA366390493

Gene: TBXT

Linked Data

• ClinVar Variation Id: 450603
• ClinVar RCV Id: RCV000520733
• dbSNP Id: rs35292451
• MyVariant Identifiers: chr6:g.166572012C>A (hg19) ; chr6:g.166158524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166158524C>A , CM000668.2:g.166158524C>A	GRCh38
NC_000006.11:g.166572012C>A , CM000668.1:g.166572012C>A	GRCh37
NC_000006.10:g.166492002C>A	NCBI36
NG_012135.1:g.15120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366876.7:c.1102G>T MANE Select	ENSP00000355841.3:p.Val368Leu
ENST00000296946.6:c.1099G>T	ENSP00000296946.2:p.Val367Leu
ENST00000366871.7:c.925G>T	ENSP00000355836.3:p.Val309Leu
ENST00000366876.6:c.1102G>T	ENSP00000355841.2:p.Val368Leu
NM_001270484.1:c.925G>T	NP_001257413.1:p.Val309Leu
NM_003181.3:c.1099G>T	NP_003172.1:p.Val367Leu
XM_011536080.1:c.1102G>T	XP_011534382.1:p.Val368Leu
XM_011536081.1:c.925G>T	XP_011534383.1:p.Val309Leu
NM_001366285.1:c.1102G>T	NP_001353214.1:p.Val368Leu
NM_001366286.1:c.1102G>T	NP_001353215.1:p.Val368Leu
NM_001270484.2:c.925G>T	NP_001257413.1:p.Val309Leu
NM_001366285.2:c.1102G>T MANE Select	NP_001353214.1:p.Val368Leu
NM_001366286.2:c.1102G>T	NP_001353215.1:p.Val368Leu
NM_003181.4:c.1099G>T	NP_003172.1:p.Val367Leu