Canonical Allele Identifier: CA410683341

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752538C>A (hg19) ; chr22:g.19765015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765015C>A , CM000684.2:g.19765015C>A	GRCh38
NC_000022.10:g.19752538C>A , CM000684.1:g.19752538C>A	GRCh37
NC_000022.9:g.18132538C>A	NCBI36
NG_009229.1:g.13313C>A , LRG_226:g.13313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.295C>A	ENSP00000514909.1:p.Pro99Thr
ENST00000649276.2:c.769C>A MANE Select	ENSP00000497003.1:p.Pro257Thr
ENST00000329705.11:c.742C>A	ENSP00000331176.7:p.Pro248Thr
ENST00000332710.8:c.742C>A	ENSP00000331791.4:p.Pro248Thr
ENST00000359500.7:c.742C>A	ENSP00000352483.3:p.Pro248Thr
ENST00000621939.1:c.742C>A	ENSP00000477982.1:p.Pro248Thr
NM_005992.1:c.742C>A	NP_005983.1:p.Pro248Thr
NM_080646.1:c.742C>A	NP_542377.1:p.Pro248Thr
NM_080647.1:c.742C>A , LRG_226t1:c.742C>A	NP_542378.1:p.Pro248Thr
XM_006724312.1:c.742C>A	XP_006724375.1:p.Pro248Thr
XM_011530351.1:c.769C>A	XP_011528653.1:p.Pro257Thr
XM_006724312.2:c.742C>A	XP_006724375.1:p.Pro248Thr
XM_017028925.1:c.892C>A	XP_016884414.1:p.Pro298Thr
XM_017028926.1:c.742C>A	XP_016884415.1:p.Pro248Thr
XM_017028927.1:c.43C>A	XP_016884416.1:p.Pro15Thr
XM_017028928.1:c.892C>A	XP_016884417.1:p.Pro298Thr
NM_001379200.1:c.769C>A MANE Select	NP_001366129.1:p.Pro257Thr
NM_080646.2:c.742C>A	NP_542377.1:p.Pro248Thr