Canonical Allele Identifier: CA10102554

Gene: TBX1

Linked Data

• dbSNP Id: rs777407225
• ExAC: 22:19752543 C / T
• gnomAD v2: 22-19752543-C-T
• gnomAD v4: 22-19765020-C-T
• MyVariant Identifiers: chr22:g.19752543C>T (hg19) ; chr22:g.19765020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765020C>T , CM000684.2:g.19765020C>T	GRCh38
NC_000022.10:g.19752543C>T , CM000684.1:g.19752543C>T	GRCh37
NC_000022.9:g.18132543C>T	NCBI36
NG_009229.1:g.13318C>T , LRG_226:g.13318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.300C>T	ENSP00000514909.1:p.Arg100=
ENST00000649276.2:c.774C>T MANE Select	ENSP00000497003.1:p.Arg258=
ENST00000329705.11:c.747C>T	ENSP00000331176.7:p.Arg249=
ENST00000332710.8:c.747C>T	ENSP00000331791.4:p.Arg249=
ENST00000359500.7:c.747C>T	ENSP00000352483.3:p.Arg249=
ENST00000621939.1:c.747C>T	ENSP00000477982.1:p.Arg249=
NM_005992.1:c.747C>T	NP_005983.1:p.Arg249=
NM_080646.1:c.747C>T	NP_542377.1:p.Arg249=
NM_080647.1:c.747C>T , LRG_226t1:c.747C>T	NP_542378.1:p.Arg249=
XM_006724312.1:c.747C>T	XP_006724375.1:p.Arg249=
XM_011530351.1:c.774C>T	XP_011528653.1:p.Arg258=
XM_006724312.2:c.747C>T	XP_006724375.1:p.Arg249=
XM_017028925.1:c.897C>T	XP_016884414.1:p.Arg299=
XM_017028926.1:c.747C>T	XP_016884415.1:p.Arg249=
XM_017028927.1:c.48C>T	XP_016884416.1:p.Arg16=
XM_017028928.1:c.897C>T	XP_016884417.1:p.Arg299=
NM_001379200.1:c.774C>T MANE Select	NP_001366129.1:p.Arg258=
NM_080646.2:c.747C>T	NP_542377.1:p.Arg249=