Canonical Allele Identifier: CA10102788
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951216
dbSNP Id: rs756769832

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766860C>G , CM000684.2:g.19766860C>G GRCh38
NC_000022.10:g.19754383C>G , CM000684.1:g.19754383C>G GRCh37
NC_000022.9:g.18134383C>G NCBI36
NG_009229.1:g.15158C>G , LRG_226:g.15158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1508C>G MANE Select ENSP00000497003.1:p.Pro503Arg
ENST00000329705.11:c.1009+858C>G ENSP00000331176.7:n.1009+858C>G
ENST00000332710.8:c.1481C>G ENSP00000331791.4:p.Pro494Arg
ENST00000359500.7:c.1009+858C>G ENSP00000352483.3:n.1009+858C>G
ENST00000621939.1:c.1009+858C>G ENSP00000477982.1:n.1009+858C>G
NM_005992.1:c.1009+858C>G NP_005983.1:n.1009+858C>G
NM_080646.1:c.1009+858C>G NP_542377.1:n.1009+858C>G
NM_080647.1:c.1481C>G , LRG_226t1:c.1481C>G NP_542378.1:p.Pro494Arg
XM_006724312.1:c.1481C>G XP_006724375.1:p.Pro494Arg
XM_011530351.1:c.1508C>G XP_011528653.1:p.Pro503Arg
XM_006724312.2:c.1481C>G XP_006724375.1:p.Pro494Arg
XM_017028925.1:c.1631C>G XP_016884414.1:p.Pro544Arg
XM_017028926.1:c.1481C>G XP_016884415.1:p.Pro494Arg
XM_017028927.1:c.836C>G XP_016884416.1:p.Pro279Arg
XM_017028928.1:c.1159+858C>G XP_016884417.1:n.1159+858C>G
NM_001379200.1:c.1508C>G MANE Select NP_001366129.1:p.Pro503Arg
NM_080646.2:c.1009+858C>G NP_542377.1:n.1009+858C>G