Canonical Allele Identifier: CA410682876

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19751760T>C (hg19) ; chr22:g.19764237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764237T>C , CM000684.2:g.19764237T>C	GRCh38
NC_000022.10:g.19751760T>C , CM000684.1:g.19751760T>C	GRCh37
NC_000022.9:g.18131760T>C	NCBI36
NG_009229.1:g.12535T>C , LRG_226:g.12535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.148T>C	ENSP00000514909.1:p.Ser50Pro
ENST00000649276.2:c.622T>C MANE Select	ENSP00000497003.1:p.Ser208Pro
ENST00000680333.1:c.595T>C	ENSP00000505472.1:p.Ser199Pro
ENST00000329705.11:c.595T>C	ENSP00000331176.7:p.Ser199Pro
ENST00000332710.8:c.595T>C	ENSP00000331791.4:p.Ser199Pro
ENST00000359500.7:c.595T>C	ENSP00000352483.3:p.Ser199Pro
ENST00000621939.1:c.595T>C	ENSP00000477982.1:p.Ser199Pro
NM_005992.1:c.595T>C	NP_005983.1:p.Ser199Pro
NM_080646.1:c.595T>C	NP_542377.1:p.Ser199Pro
NM_080647.1:c.595T>C , LRG_226t1:c.595T>C	NP_542378.1:p.Ser199Pro
XM_006724312.1:c.595T>C	XP_006724375.1:p.Ser199Pro
XM_011530351.1:c.622T>C	XP_011528653.1:p.Ser208Pro
XM_006724312.2:c.595T>C	XP_006724375.1:p.Ser199Pro
XM_017028925.1:c.745T>C	XP_016884414.1:p.Ser249Pro
XM_017028926.1:c.595T>C	XP_016884415.1:p.Ser199Pro
XM_017028928.1:c.745T>C	XP_016884417.1:p.Ser249Pro
NM_001379200.1:c.622T>C MANE Select	NP_001366129.1:p.Ser208Pro
NM_080646.2:c.595T>C	NP_542377.1:p.Ser199Pro