Canonical Allele Identifier: CA410685836

Gene: TBX1

Linked Data

• COSMIC: COSM164825
• MyVariant Identifiers: chr22:g.19754386G>T (hg19) ; chr22:g.19766863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766863G>T , CM000684.2:g.19766863G>T	GRCh38
NC_000022.10:g.19754386G>T , CM000684.1:g.19754386G>T	GRCh37
NC_000022.9:g.18134386G>T	NCBI36
NG_009229.1:g.15161G>T , LRG_226:g.15161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1511G>T MANE Select	ENSP00000497003.1:p.Arg504Ile
ENST00000329705.11:c.1009+861G>T	ENSP00000331176.7:n.1009+861G>T
ENST00000332710.8:c.1484G>T	ENSP00000331791.4:p.Arg495Ile
ENST00000359500.7:c.1009+861G>T	ENSP00000352483.3:n.1009+861G>T
ENST00000621939.1:c.1009+861G>T	ENSP00000477982.1:n.1009+861G>T
NM_005992.1:c.1009+861G>T	NP_005983.1:n.1009+861G>T
NM_080646.1:c.1009+861G>T	NP_542377.1:n.1009+861G>T
NM_080647.1:c.1484G>T , LRG_226t1:c.1484G>T	NP_542378.1:p.Arg495Ile
XM_006724312.1:c.1484G>T	XP_006724375.1:p.Arg495Ile
XM_011530351.1:c.1511G>T	XP_011528653.1:p.Arg504Ile
XM_006724312.2:c.1484G>T	XP_006724375.1:p.Arg495Ile
XM_017028925.1:c.1634G>T	XP_016884414.1:p.Arg545Ile
XM_017028926.1:c.1484G>T	XP_016884415.1:p.Arg495Ile
XM_017028927.1:c.839G>T	XP_016884416.1:p.Arg280Ile
XM_017028928.1:c.1159+861G>T	XP_016884417.1:n.1159+861G>T
NM_001379200.1:c.1511G>T MANE Select	NP_001366129.1:p.Arg504Ile
NM_080646.2:c.1009+861G>T	NP_542377.1:n.1009+861G>T