Canonical Allele Identifier: CA410683365

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752548A>T (hg19) ; chr22:g.19765025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765025A>T , CM000684.2:g.19765025A>T	GRCh38
NC_000022.10:g.19752548A>T , CM000684.1:g.19752548A>T	GRCh37
NC_000022.9:g.18132548A>T	NCBI36
NG_009229.1:g.13323A>T , LRG_226:g.13323A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.305A>T	ENSP00000514909.1:p.Asp102Val
ENST00000649276.2:c.779A>T MANE Select	ENSP00000497003.1:p.Asp260Val
ENST00000329705.11:c.752A>T	ENSP00000331176.7:p.Asp251Val
ENST00000332710.8:c.752A>T	ENSP00000331791.4:p.Asp251Val
ENST00000359500.7:c.752A>T	ENSP00000352483.3:p.Asp251Val
ENST00000621939.1:c.752A>T	ENSP00000477982.1:p.Asp251Val
NM_005992.1:c.752A>T	NP_005983.1:p.Asp251Val
NM_080646.1:c.752A>T	NP_542377.1:p.Asp251Val
NM_080647.1:c.752A>T , LRG_226t1:c.752A>T	NP_542378.1:p.Asp251Val
XM_006724312.1:c.752A>T	XP_006724375.1:p.Asp251Val
XM_011530351.1:c.779A>T	XP_011528653.1:p.Asp260Val
XM_006724312.2:c.752A>T	XP_006724375.1:p.Asp251Val
XM_017028925.1:c.902A>T	XP_016884414.1:p.Asp301Val
XM_017028926.1:c.752A>T	XP_016884415.1:p.Asp251Val
XM_017028927.1:c.53A>T	XP_016884416.1:p.Asp18Val
XM_017028928.1:c.902A>T	XP_016884417.1:p.Asp301Val
NM_001379200.1:c.779A>T MANE Select	NP_001366129.1:p.Asp260Val
NM_080646.2:c.752A>T	NP_542377.1:p.Asp251Val