Canonical Allele Identifier: CA513361394

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752534G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765011G>A , CM000684.2:g.19765011G>A	GRCh38
NC_000022.10:g.19752534G>A , CM000684.1:g.19752534G>A	GRCh37
NC_000022.9:g.18132534G>A	NCBI36
NG_009229.1:g.13309G>A , LRG_226:g.13309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.291G>A	ENSP00000514909.1:p.Val97=
ENST00000649276.2:c.765G>A MANE Select	ENSP00000497003.1:p.Val255=
ENST00000329705.11:c.738G>A	ENSP00000331176.7:p.Val246=
ENST00000332710.8:c.738G>A	ENSP00000331791.4:p.Val246=
ENST00000359500.7:c.738G>A	ENSP00000352483.3:p.Val246=
ENST00000621939.1:c.738G>A	ENSP00000477982.1:p.Val246=
NM_005992.1:c.738G>A	NP_005983.1:p.Val246=
NM_080646.1:c.738G>A	NP_542377.1:p.Val246=
NM_080647.1:c.738G>A , LRG_226t1:c.738G>A	NP_542378.1:p.Val246=
XM_006724312.1:c.738G>A	XP_006724375.1:p.Val246=
XM_011530351.1:c.765G>A	XP_011528653.1:p.Val255=
XM_006724312.2:c.738G>A	XP_006724375.1:p.Val246=
XM_017028925.1:c.888G>A	XP_016884414.1:p.Val296=
XM_017028926.1:c.738G>A	XP_016884415.1:p.Val246=
XM_017028927.1:c.39G>A	XP_016884416.1:p.Val13=
XM_017028928.1:c.888G>A	XP_016884417.1:p.Val296=
NM_001379200.1:c.765G>A MANE Select	NP_001366129.1:p.Val255=
NM_080646.2:c.738G>A	NP_542377.1:p.Val246=