Canonical Allele Identifier: CA410684826
Gene: TBX1 HGNC NCBI

Linked Data

dbSNP Id: rs1247147500

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766635C>A , CM000684.2:g.19766635C>A GRCh38
NC_000022.10:g.19754158C>A , CM000684.1:g.19754158C>A GRCh37
NC_000022.9:g.18134158C>A NCBI36
NG_009229.1:g.14933C>A , LRG_226:g.14933C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1283C>A MANE Select ENSP00000497003.1:p.Pro428Gln
ENST00000329705.11:c.1009+633C>A ENSP00000331176.7:n.1009+633C>A
ENST00000332710.8:c.1256C>A ENSP00000331791.4:p.Pro419Gln
ENST00000359500.7:c.1009+633C>A ENSP00000352483.3:n.1009+633C>A
ENST00000621939.1:c.1009+633C>A ENSP00000477982.1:n.1009+633C>A
NM_005992.1:c.1009+633C>A NP_005983.1:n.1009+633C>A
NM_080646.1:c.1009+633C>A NP_542377.1:n.1009+633C>A
NM_080647.1:c.1256C>A , LRG_226t1:c.1256C>A NP_542378.1:p.Pro419Gln
XM_006724312.1:c.1256C>A XP_006724375.1:p.Pro419Gln
XM_011530351.1:c.1283C>A XP_011528653.1:p.Pro428Gln
XM_006724312.2:c.1256C>A XP_006724375.1:p.Pro419Gln
XM_017028925.1:c.1406C>A XP_016884414.1:p.Pro469Gln
XM_017028926.1:c.1256C>A XP_016884415.1:p.Pro419Gln
XM_017028927.1:c.611C>A XP_016884416.1:p.Pro204Gln
XM_017028928.1:c.1159+633C>A XP_016884417.1:n.1159+633C>A
NM_001379200.1:c.1283C>A MANE Select NP_001366129.1:p.Pro428Gln
NM_080646.2:c.1009+633C>A NP_542377.1:n.1009+633C>A