Canonical Allele Identifier: CA410683000

Gene: TBX1

Linked Data

• gnomAD v4: 22-19764264-A-C
• MyVariant Identifiers: chr22:g.19751787A>C (hg19) ; chr22:g.19764264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764264A>C , CM000684.2:g.19764264A>C	GRCh38
NC_000022.10:g.19751787A>C , CM000684.1:g.19751787A>C	GRCh37
NC_000022.9:g.18131787A>C	NCBI36
NG_009229.1:g.12562A>C , LRG_226:g.12562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.175A>C	ENSP00000514909.1:p.Lys59Gln
ENST00000649276.2:c.649A>C MANE Select	ENSP00000497003.1:p.Lys217Gln
ENST00000680333.1:c.622A>C	ENSP00000505472.1:p.Lys208Gln
ENST00000329705.11:c.622A>C	ENSP00000331176.7:p.Lys208Gln
ENST00000332710.8:c.622A>C	ENSP00000331791.4:p.Lys208Gln
ENST00000359500.7:c.622A>C	ENSP00000352483.3:p.Lys208Gln
ENST00000621939.1:c.622A>C	ENSP00000477982.1:p.Lys208Gln
NM_005992.1:c.622A>C	NP_005983.1:p.Lys208Gln
NM_080646.1:c.622A>C	NP_542377.1:p.Lys208Gln
NM_080647.1:c.622A>C , LRG_226t1:c.622A>C	NP_542378.1:p.Lys208Gln
XM_006724312.1:c.622A>C	XP_006724375.1:p.Lys208Gln
XM_011530351.1:c.649A>C	XP_011528653.1:p.Lys217Gln
XM_006724312.2:c.622A>C	XP_006724375.1:p.Lys208Gln
XM_017028925.1:c.772A>C	XP_016884414.1:p.Lys258Gln
XM_017028926.1:c.622A>C	XP_016884415.1:p.Lys208Gln
XM_017028928.1:c.772A>C	XP_016884417.1:p.Lys258Gln
NM_001379200.1:c.649A>C MANE Select	NP_001366129.1:p.Lys217Gln
NM_080646.2:c.622A>C	NP_542377.1:p.Lys208Gln