Canonical Allele Identifier: CA410683332

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752533T>G (hg19) ; chr22:g.19765010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765010T>G , CM000684.2:g.19765010T>G	GRCh38
NC_000022.10:g.19752533T>G , CM000684.1:g.19752533T>G	GRCh37
NC_000022.9:g.18132533T>G	NCBI36
NG_009229.1:g.13308T>G , LRG_226:g.13308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.290T>G	ENSP00000514909.1:p.Val97Gly
ENST00000649276.2:c.764T>G MANE Select	ENSP00000497003.1:p.Val255Gly
ENST00000329705.11:c.737T>G	ENSP00000331176.7:p.Val246Gly
ENST00000332710.8:c.737T>G	ENSP00000331791.4:p.Val246Gly
ENST00000359500.7:c.737T>G	ENSP00000352483.3:p.Val246Gly
ENST00000621939.1:c.737T>G	ENSP00000477982.1:p.Val246Gly
NM_005992.1:c.737T>G	NP_005983.1:p.Val246Gly
NM_080646.1:c.737T>G	NP_542377.1:p.Val246Gly
NM_080647.1:c.737T>G , LRG_226t1:c.737T>G	NP_542378.1:p.Val246Gly
XM_006724312.1:c.737T>G	XP_006724375.1:p.Val246Gly
XM_011530351.1:c.764T>G	XP_011528653.1:p.Val255Gly
XM_006724312.2:c.737T>G	XP_006724375.1:p.Val246Gly
XM_017028925.1:c.887T>G	XP_016884414.1:p.Val296Gly
XM_017028926.1:c.737T>G	XP_016884415.1:p.Val246Gly
XM_017028927.1:c.38T>G	XP_016884416.1:p.Val13Gly
XM_017028928.1:c.887T>G	XP_016884417.1:p.Val296Gly
NM_001379200.1:c.764T>G MANE Select	NP_001366129.1:p.Val255Gly
NM_080646.2:c.737T>G	NP_542377.1:p.Val246Gly