Canonical Allele Identifier: CA410683461

Gene: TBX1

Linked Data

• dbSNP Id: rs1601290929
• gnomAD v4: 22-19765064-T-C
• MyVariant Identifiers: chr22:g.19752587T>C (hg19) ; chr22:g.19765064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765064T>C , CM000684.2:g.19765064T>C	GRCh38
NC_000022.10:g.19752587T>C , CM000684.1:g.19752587T>C	GRCh37
NC_000022.9:g.18132587T>C	NCBI36
NG_009229.1:g.13362T>C , LRG_226:g.13362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.344T>C	ENSP00000514909.1:p.Val115Ala
ENST00000649276.2:c.818T>C MANE Select	ENSP00000497003.1:p.Val273Ala
ENST00000329705.11:c.791T>C	ENSP00000331176.7:p.Val264Ala
ENST00000332710.8:c.791T>C	ENSP00000331791.4:p.Val264Ala
ENST00000359500.7:c.791T>C	ENSP00000352483.3:p.Val264Ala
ENST00000621939.1:c.791T>C	ENSP00000477982.1:p.Val264Ala
NM_005992.1:c.791T>C	NP_005983.1:p.Val264Ala
NM_080646.1:c.791T>C	NP_542377.1:p.Val264Ala
NM_080647.1:c.791T>C , LRG_226t1:c.791T>C	NP_542378.1:p.Val264Ala
XM_006724312.1:c.791T>C	XP_006724375.1:p.Val264Ala
XM_011530351.1:c.818T>C	XP_011528653.1:p.Val273Ala
XM_006724312.2:c.791T>C	XP_006724375.1:p.Val264Ala
XM_017028925.1:c.941T>C	XP_016884414.1:p.Val314Ala
XM_017028926.1:c.791T>C	XP_016884415.1:p.Val264Ala
XM_017028927.1:c.92T>C	XP_016884416.1:p.Val31Ala
XM_017028928.1:c.941T>C	XP_016884417.1:p.Val314Ala
NM_001379200.1:c.818T>C MANE Select	NP_001366129.1:p.Val273Ala
NM_080646.2:c.791T>C	NP_542377.1:p.Val264Ala