Canonical Allele Identifier: CA410683061

Gene: TBX1

Linked Data

• gnomAD v4: 22-19764277-C-T
• MyVariant Identifiers: chr22:g.19751800C>T (hg19) ; chr22:g.19764277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764277C>T , CM000684.2:g.19764277C>T	GRCh38
NC_000022.10:g.19751800C>T , CM000684.1:g.19751800C>T	GRCh37
NC_000022.9:g.18131800C>T	NCBI36
NG_009229.1:g.12575C>T , LRG_226:g.12575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.188C>T	ENSP00000514909.1:p.Ser63Phe
ENST00000649276.2:c.662C>T MANE Select	ENSP00000497003.1:p.Ser221Phe
ENST00000680333.1:c.635C>T	ENSP00000505472.1:p.Ser212Phe
ENST00000329705.11:c.635C>T	ENSP00000331176.7:p.Ser212Phe
ENST00000332710.8:c.635C>T	ENSP00000331791.4:p.Ser212Phe
ENST00000359500.7:c.635C>T	ENSP00000352483.3:p.Ser212Phe
ENST00000621939.1:c.635C>T	ENSP00000477982.1:p.Ser212Phe
NM_005992.1:c.635C>T	NP_005983.1:p.Ser212Phe
NM_080646.1:c.635C>T	NP_542377.1:p.Ser212Phe
NM_080647.1:c.635C>T , LRG_226t1:c.635C>T	NP_542378.1:p.Ser212Phe
XM_006724312.1:c.635C>T	XP_006724375.1:p.Ser212Phe
XM_011530351.1:c.662C>T	XP_011528653.1:p.Ser221Phe
XM_006724312.2:c.635C>T	XP_006724375.1:p.Ser212Phe
XM_017028925.1:c.785C>T	XP_016884414.1:p.Ser262Phe
XM_017028926.1:c.635C>T	XP_016884415.1:p.Ser212Phe
XM_017028928.1:c.785C>T	XP_016884417.1:p.Ser262Phe
NM_001379200.1:c.662C>T MANE Select	NP_001366129.1:p.Ser221Phe
NM_080646.2:c.635C>T	NP_542377.1:p.Ser212Phe