Canonical Allele Identifier: CA10102557

Gene: TBX1

Linked Data

• dbSNP Id: rs776429167
• ExAC: 22:19752563 C / T
• gnomAD v2: 22-19752563-C-T
• gnomAD v4: 22-19765040-C-T
• COSMIC: COSM305597 ; COSM305598 ; COSM305599
• MyVariant Identifiers: chr22:g.19752563C>T (hg19) ; chr22:g.19765040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765040C>T , CM000684.2:g.19765040C>T	GRCh38
NC_000022.10:g.19752563C>T , CM000684.1:g.19752563C>T	GRCh37
NC_000022.9:g.18132563C>T	NCBI36
NG_009229.1:g.13338C>T , LRG_226:g.13338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.320C>T	ENSP00000514909.1:p.Ala107Val
ENST00000649276.2:c.794C>T MANE Select	ENSP00000497003.1:p.Ala265Val
ENST00000329705.11:c.767C>T	ENSP00000331176.7:p.Ala256Val
ENST00000332710.8:c.767C>T	ENSP00000331791.4:p.Ala256Val
ENST00000359500.7:c.767C>T	ENSP00000352483.3:p.Ala256Val
ENST00000621939.1:c.767C>T	ENSP00000477982.1:p.Ala256Val
NM_005992.1:c.767C>T	NP_005983.1:p.Ala256Val
NM_080646.1:c.767C>T	NP_542377.1:p.Ala256Val
NM_080647.1:c.767C>T , LRG_226t1:c.767C>T	NP_542378.1:p.Ala256Val
XM_006724312.1:c.767C>T	XP_006724375.1:p.Ala256Val
XM_011530351.1:c.794C>T	XP_011528653.1:p.Ala265Val
XM_006724312.2:c.767C>T	XP_006724375.1:p.Ala256Val
XM_017028925.1:c.917C>T	XP_016884414.1:p.Ala306Val
XM_017028926.1:c.767C>T	XP_016884415.1:p.Ala256Val
XM_017028927.1:c.68C>T	XP_016884416.1:p.Ala23Val
XM_017028928.1:c.917C>T	XP_016884417.1:p.Ala306Val
NM_001379200.1:c.794C>T MANE Select	NP_001366129.1:p.Ala265Val
NM_080646.2:c.767C>T	NP_542377.1:p.Ala256Val