Canonical Allele Identifier: CA513361386

Gene: TBX1

Linked Data

• dbSNP Id: rs1395131640
• gnomAD v3: 22-19764996-C-T
• gnomAD v4: 22-19764996-C-T
• MyVariant Identifiers: chr22:g.19752519C>T (hg19) ; chr22:g.19764996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764996C>T , CM000684.2:g.19764996C>T	GRCh38
NC_000022.10:g.19752519C>T , CM000684.1:g.19752519C>T	GRCh37
NC_000022.9:g.18132519C>T	NCBI36
NG_009229.1:g.13294C>T , LRG_226:g.13294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.276C>T	ENSP00000514909.1:p.Phe92=
ENST00000649276.2:c.750C>T MANE Select	ENSP00000497003.1:p.Phe250=
ENST00000329705.11:c.723C>T	ENSP00000331176.7:p.Phe241=
ENST00000332710.8:c.723C>T	ENSP00000331791.4:p.Phe241=
ENST00000359500.7:c.723C>T	ENSP00000352483.3:p.Phe241=
ENST00000621939.1:c.723C>T	ENSP00000477982.1:p.Phe241=
NM_005992.1:c.723C>T	NP_005983.1:p.Phe241=
NM_080646.1:c.723C>T	NP_542377.1:p.Phe241=
NM_080647.1:c.723C>T , LRG_226t1:c.723C>T	NP_542378.1:p.Phe241=
XM_006724312.1:c.723C>T	XP_006724375.1:p.Phe241=
XM_011530351.1:c.750C>T	XP_011528653.1:p.Phe250=
XM_006724312.2:c.723C>T	XP_006724375.1:p.Phe241=
XM_017028925.1:c.873C>T	XP_016884414.1:p.Phe291=
XM_017028926.1:c.723C>T	XP_016884415.1:p.Phe241=
XM_017028927.1:c.24C>T	XP_016884416.1:p.Phe8=
XM_017028928.1:c.873C>T	XP_016884417.1:p.Phe291=
NM_001379200.1:c.750C>T MANE Select	NP_001366129.1:p.Phe250=
NM_080646.2:c.723C>T	NP_542377.1:p.Phe241=