Canonical Allele Identifier: CA410681870

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19761281G>C , CM000684.2:g.19761281G>C	GRCh38
NC_000022.10:g.19748804G>C , CM000684.1:g.19748804G>C	GRCh37
NC_000022.9:g.18128804G>C	NCBI36
NG_009229.1:g.9579G>C , LRG_226:g.9579G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001379200.1:c.437+1G>C MANE Select	NP_001366129.1:n.437+1G>C
ENST00000649276.2:c.437+1G>C MANE Select	ENSP00000497003.1:n.437+1G>C
NM_005992.1:c.410+1G>C	NP_005983.1:n.410+1G>C
NM_080646.1:c.410+1G>C	NP_542377.1:n.410+1G>C
NM_080646.2:c.410+1G>C	NP_542377.1:n.410+1G>C
NM_080647.1:c.410+1G>C , LRG_226t1:c.410+1G>C	NP_542378.1:n.410+1G>C
ENST00000329705.11:c.410+1G>C	ENSP00000331176.7:n.410+1G>C
ENST00000332710.8:c.410+1G>C	ENSP00000331791.4:n.410+1G>C
ENST00000359500.7:c.410+1G>C	ENSP00000352483.3:n.410+1G>C
ENST00000475303.1:n.84+1G>C
ENST00000621939.1:c.410+1G>C	ENSP00000477982.1:n.410+1G>C
ENST00000680333.1:c.410+1G>C	ENSP00000505472.1:n.410+1G>C
ENST00000700274.1:c.-38+1604G>C	ENSP00000514909.1:n.-38+1604G>C
XM_006724312.1:c.410+1G>C	XP_006724375.1:n.410+1G>C
XM_006724312.2:c.410+1G>C	XP_006724375.1:n.410+1G>C
XM_011530351.1:c.437+1G>C	XP_011528653.1:n.437+1G>C
XM_017028925.1:c.560+1G>C	XP_016884414.1:n.560+1G>C
XM_017028926.1:c.410+1G>C	XP_016884415.1:n.410+1G>C
XM_017028928.1:c.560+1G>C	XP_016884417.1:n.560+1G>C