Canonical Allele Identifier: CA410685045

Gene: TBX1

Linked Data

• dbSNP Id: rs1252023187
• gnomAD v2: 22-19754212-C-T
• gnomAD v4: 22-19766689-C-T
• MyVariant Identifiers: chr22:g.19754212C>T (hg19) ; chr22:g.19766689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766689C>T , CM000684.2:g.19766689C>T	GRCh38
NC_000022.10:g.19754212C>T , CM000684.1:g.19754212C>T	GRCh37
NC_000022.9:g.18134212C>T	NCBI36
NG_009229.1:g.14987C>T , LRG_226:g.14987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1337C>T MANE Select	ENSP00000497003.1:p.Pro446Leu
ENST00000329705.11:c.1009+687C>T	ENSP00000331176.7:n.1009+687C>T
ENST00000332710.8:c.1310C>T	ENSP00000331791.4:p.Pro437Leu
ENST00000359500.7:c.1009+687C>T	ENSP00000352483.3:n.1009+687C>T
ENST00000621939.1:c.1009+687C>T	ENSP00000477982.1:n.1009+687C>T
NM_005992.1:c.1009+687C>T	NP_005983.1:n.1009+687C>T
NM_080646.1:c.1009+687C>T	NP_542377.1:n.1009+687C>T
NM_080647.1:c.1310C>T , LRG_226t1:c.1310C>T	NP_542378.1:p.Pro437Leu
XM_006724312.1:c.1310C>T	XP_006724375.1:p.Pro437Leu
XM_011530351.1:c.1337C>T	XP_011528653.1:p.Pro446Leu
XM_006724312.2:c.1310C>T	XP_006724375.1:p.Pro437Leu
XM_017028925.1:c.1460C>T	XP_016884414.1:p.Pro487Leu
XM_017028926.1:c.1310C>T	XP_016884415.1:p.Pro437Leu
XM_017028927.1:c.665C>T	XP_016884416.1:p.Pro222Leu
XM_017028928.1:c.1159+687C>T	XP_016884417.1:n.1159+687C>T
NM_001379200.1:c.1337C>T MANE Select	NP_001366129.1:p.Pro446Leu
NM_080646.2:c.1009+687C>T	NP_542377.1:n.1009+687C>T