Canonical Allele Identifier: CA513361368

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752492T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764969T>C , CM000684.2:g.19764969T>C	GRCh38
NC_000022.10:g.19752492T>C , CM000684.1:g.19752492T>C	GRCh37
NC_000022.9:g.18132492T>C	NCBI36
NG_009229.1:g.13267T>C , LRG_226:g.13267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.249T>C	ENSP00000514909.1:p.Asn83=
ENST00000649276.2:c.723T>C MANE Select	ENSP00000497003.1:p.Asn241=
ENST00000680333.1:c.696T>C	ENSP00000505472.1:p.Asn232=
ENST00000329705.11:c.696T>C	ENSP00000331176.7:p.Asn232=
ENST00000332710.8:c.696T>C	ENSP00000331791.4:p.Asn232=
ENST00000359500.7:c.696T>C	ENSP00000352483.3:p.Asn232=
ENST00000621939.1:c.696T>C	ENSP00000477982.1:p.Asn232=
NM_005992.1:c.696T>C	NP_005983.1:p.Asn232=
NM_080646.1:c.696T>C	NP_542377.1:p.Asn232=
NM_080647.1:c.696T>C , LRG_226t1:c.696T>C	NP_542378.1:p.Asn232=
XM_006724312.1:c.696T>C	XP_006724375.1:p.Asn232=
XM_011530351.1:c.723T>C	XP_011528653.1:p.Asn241=
XM_006724312.2:c.696T>C	XP_006724375.1:p.Asn232=
XM_017028925.1:c.846T>C	XP_016884414.1:p.Asn282=
XM_017028926.1:c.696T>C	XP_016884415.1:p.Asn232=
XM_017028927.1:c.-4T>C	XP_016884416.1:n.-4T>C
XM_017028928.1:c.846T>C	XP_016884417.1:p.Asn282=
NM_001379200.1:c.723T>C MANE Select	NP_001366129.1:p.Asn241=
NM_080646.2:c.696T>C	NP_542377.1:p.Asn232=