Canonical Allele Identifier: CA410683313

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752524T>C (hg19) ; chr22:g.19765001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765001T>C , CM000684.2:g.19765001T>C	GRCh38
NC_000022.10:g.19752524T>C , CM000684.1:g.19752524T>C	GRCh37
NC_000022.9:g.18132524T>C	NCBI36
NG_009229.1:g.13299T>C , LRG_226:g.13299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.281T>C	ENSP00000514909.1:p.Val94Ala
ENST00000649276.2:c.755T>C MANE Select	ENSP00000497003.1:p.Val252Ala
ENST00000329705.11:c.728T>C	ENSP00000331176.7:p.Val243Ala
ENST00000332710.8:c.728T>C	ENSP00000331791.4:p.Val243Ala
ENST00000359500.7:c.728T>C	ENSP00000352483.3:p.Val243Ala
ENST00000621939.1:c.728T>C	ENSP00000477982.1:p.Val243Ala
NM_005992.1:c.728T>C	NP_005983.1:p.Val243Ala
NM_080646.1:c.728T>C	NP_542377.1:p.Val243Ala
NM_080647.1:c.728T>C , LRG_226t1:c.728T>C	NP_542378.1:p.Val243Ala
XM_006724312.1:c.728T>C	XP_006724375.1:p.Val243Ala
XM_011530351.1:c.755T>C	XP_011528653.1:p.Val252Ala
XM_006724312.2:c.728T>C	XP_006724375.1:p.Val243Ala
XM_017028925.1:c.878T>C	XP_016884414.1:p.Val293Ala
XM_017028926.1:c.728T>C	XP_016884415.1:p.Val243Ala
XM_017028927.1:c.29T>C	XP_016884416.1:p.Val10Ala
XM_017028928.1:c.878T>C	XP_016884417.1:p.Val293Ala
NM_001379200.1:c.755T>C MANE Select	NP_001366129.1:p.Val252Ala
NM_080646.2:c.728T>C	NP_542377.1:p.Val243Ala