Canonical Allele Identifier: CA410683281

Gene: TBX1

Linked Data

• ClinVar Variation Id: 3228971
• ClinVar RCV Id: RCV004522598
• gnomAD v4: 22-19764988-C-G
• MyVariant Identifiers: chr22:g.19752511C>G (hg19) ; chr22:g.19764988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764988C>G , CM000684.2:g.19764988C>G	GRCh38
NC_000022.10:g.19752511C>G , CM000684.1:g.19752511C>G	GRCh37
NC_000022.9:g.18132511C>G	NCBI36
NG_009229.1:g.13286C>G , LRG_226:g.13286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.268C>G	ENSP00000514909.1:p.Pro90Ala
ENST00000649276.2:c.742C>G MANE Select	ENSP00000497003.1:p.Pro248Ala
ENST00000680333.1:c.715C>G	ENSP00000505472.1:p.Pro239Ala
ENST00000329705.11:c.715C>G	ENSP00000331176.7:p.Pro239Ala
ENST00000332710.8:c.715C>G	ENSP00000331791.4:p.Pro239Ala
ENST00000359500.7:c.715C>G	ENSP00000352483.3:p.Pro239Ala
ENST00000621939.1:c.715C>G	ENSP00000477982.1:p.Pro239Ala
NM_005992.1:c.715C>G	NP_005983.1:p.Pro239Ala
NM_080646.1:c.715C>G	NP_542377.1:p.Pro239Ala
NM_080647.1:c.715C>G , LRG_226t1:c.715C>G	NP_542378.1:p.Pro239Ala
XM_006724312.1:c.715C>G	XP_006724375.1:p.Pro239Ala
XM_011530351.1:c.742C>G	XP_011528653.1:p.Pro248Ala
XM_006724312.2:c.715C>G	XP_006724375.1:p.Pro239Ala
XM_017028925.1:c.865C>G	XP_016884414.1:p.Pro289Ala
XM_017028926.1:c.715C>G	XP_016884415.1:p.Pro239Ala
XM_017028927.1:c.16C>G	XP_016884416.1:p.Pro6Ala
XM_017028928.1:c.865C>G	XP_016884417.1:p.Pro289Ala
NM_001379200.1:c.742C>G MANE Select	NP_001366129.1:p.Pro248Ala
NM_080646.2:c.715C>G	NP_542377.1:p.Pro239Ala