Canonical Allele Identifier: CA322058513

Gene: TBX1

Linked Data

• dbSNP Id: rs371557427
• gnomAD v2: 22-19754162-C-T
• gnomAD v3: 22-19766639-C-T
• gnomAD v4: 22-19766639-C-T
• MyVariant Identifiers: chr22:g.19754162C>T (hg19) ; chr22:g.19766639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766639C>T , CM000684.2:g.19766639C>T	GRCh38
NC_000022.10:g.19754162C>T , CM000684.1:g.19754162C>T	GRCh37
NC_000022.9:g.18134162C>T	NCBI36
NG_009229.1:g.14937C>T , LRG_226:g.14937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1287C>T MANE Select	ENSP00000497003.1:p.Ala429=
ENST00000329705.11:c.1009+637C>T	ENSP00000331176.7:n.1009+637C>T
ENST00000332710.8:c.1260C>T	ENSP00000331791.4:p.Ala420=
ENST00000359500.7:c.1009+637C>T	ENSP00000352483.3:n.1009+637C>T
ENST00000621939.1:c.1009+637C>T	ENSP00000477982.1:n.1009+637C>T
NM_005992.1:c.1009+637C>T	NP_005983.1:n.1009+637C>T
NM_080646.1:c.1009+637C>T	NP_542377.1:n.1009+637C>T
NM_080647.1:c.1260C>T , LRG_226t1:c.1260C>T	NP_542378.1:p.Ala420=
XM_006724312.1:c.1260C>T	XP_006724375.1:p.Ala420=
XM_011530351.1:c.1287C>T	XP_011528653.1:p.Ala429=
XM_006724312.2:c.1260C>T	XP_006724375.1:p.Ala420=
XM_017028925.1:c.1410C>T	XP_016884414.1:p.Ala470=
XM_017028926.1:c.1260C>T	XP_016884415.1:p.Ala420=
XM_017028927.1:c.615C>T	XP_016884416.1:p.Ala205=
XM_017028928.1:c.1159+637C>T	XP_016884417.1:n.1159+637C>T
NM_001379200.1:c.1287C>T MANE Select	NP_001366129.1:p.Ala429=
NM_080646.2:c.1009+637C>T	NP_542377.1:n.1009+637C>T