Canonical Allele Identifier: CA410682850

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2414263
• ClinVar RCV Id: RCV003106596
• dbSNP Id: rs2145833917
• MyVariant Identifiers: chr22:g.19751754C>G (hg19) ; chr22:g.19764231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764231C>G , CM000684.2:g.19764231C>G	GRCh38
NC_000022.10:g.19751754C>G , CM000684.1:g.19751754C>G	GRCh37
NC_000022.9:g.18131754C>G	NCBI36
NG_009229.1:g.12529C>G , LRG_226:g.12529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.142C>G	ENSP00000514909.1:p.Pro48Ala
ENST00000649276.2:c.616C>G MANE Select	ENSP00000497003.1:p.Pro206Ala
ENST00000680333.1:c.589C>G	ENSP00000505472.1:p.Pro197Ala
ENST00000329705.11:c.589C>G	ENSP00000331176.7:p.Pro197Ala
ENST00000332710.8:c.589C>G	ENSP00000331791.4:p.Pro197Ala
ENST00000359500.7:c.589C>G	ENSP00000352483.3:p.Pro197Ala
ENST00000621939.1:c.589C>G	ENSP00000477982.1:p.Pro197Ala
NM_005992.1:c.589C>G	NP_005983.1:p.Pro197Ala
NM_080646.1:c.589C>G	NP_542377.1:p.Pro197Ala
NM_080647.1:c.589C>G , LRG_226t1:c.589C>G	NP_542378.1:p.Pro197Ala
XM_006724312.1:c.589C>G	XP_006724375.1:p.Pro197Ala
XM_011530351.1:c.616C>G	XP_011528653.1:p.Pro206Ala
XM_006724312.2:c.589C>G	XP_006724375.1:p.Pro197Ala
XM_017028925.1:c.739C>G	XP_016884414.1:p.Pro247Ala
XM_017028926.1:c.589C>G	XP_016884415.1:p.Pro197Ala
XM_017028928.1:c.739C>G	XP_016884417.1:p.Pro247Ala
NM_001379200.1:c.616C>G MANE Select	NP_001366129.1:p.Pro206Ala
NM_080646.2:c.589C>G	NP_542377.1:p.Pro197Ala