Canonical Allele Identifier: CA10102779
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 586784
dbSNP Id: rs762076391

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766836C>A , CM000684.2:g.19766836C>A GRCh38
NC_000022.10:g.19754359C>A , CM000684.1:g.19754359C>A GRCh37
NC_000022.9:g.18134359C>A NCBI36
NG_009229.1:g.15134C>A , LRG_226:g.15134C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1484C>A MANE Select ENSP00000497003.1:p.Pro495Gln
ENST00000329705.11:c.1009+834C>A ENSP00000331176.7:n.1009+834C>A
ENST00000332710.8:c.1457C>A ENSP00000331791.4:p.Pro486Gln
ENST00000359500.7:c.1009+834C>A ENSP00000352483.3:n.1009+834C>A
ENST00000621939.1:c.1009+834C>A ENSP00000477982.1:n.1009+834C>A
NM_005992.1:c.1009+834C>A NP_005983.1:n.1009+834C>A
NM_080646.1:c.1009+834C>A NP_542377.1:n.1009+834C>A
NM_080647.1:c.1457C>A , LRG_226t1:c.1457C>A NP_542378.1:p.Pro486Gln
XM_006724312.1:c.1457C>A XP_006724375.1:p.Pro486Gln
XM_011530351.1:c.1484C>A XP_011528653.1:p.Pro495Gln
XM_006724312.2:c.1457C>A XP_006724375.1:p.Pro486Gln
XM_017028925.1:c.1607C>A XP_016884414.1:p.Pro536Gln
XM_017028926.1:c.1457C>A XP_016884415.1:p.Pro486Gln
XM_017028927.1:c.812C>A XP_016884416.1:p.Pro271Gln
XM_017028928.1:c.1159+834C>A XP_016884417.1:n.1159+834C>A
NM_001379200.1:c.1484C>A MANE Select NP_001366129.1:p.Pro495Gln
NM_080646.2:c.1009+834C>A NP_542377.1:n.1009+834C>A