Canonical Allele Identifier: CA10102784
Gene: TBX1 HGNC NCBI

Linked Data

dbSNP Id: rs564141057

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766845C>T , CM000684.2:g.19766845C>T GRCh38
NC_000022.10:g.19754368C>T , CM000684.1:g.19754368C>T GRCh37
NC_000022.9:g.18134368C>T NCBI36
NG_009229.1:g.15143C>T , LRG_226:g.15143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1493C>T MANE Select ENSP00000497003.1:p.Ser498Phe
ENST00000329705.11:c.1009+843C>T ENSP00000331176.7:n.1009+843C>T
ENST00000332710.8:c.1466C>T ENSP00000331791.4:p.Ser489Phe
ENST00000359500.7:c.1009+843C>T ENSP00000352483.3:n.1009+843C>T
ENST00000621939.1:c.1009+843C>T ENSP00000477982.1:n.1009+843C>T
NM_005992.1:c.1009+843C>T NP_005983.1:n.1009+843C>T
NM_080646.1:c.1009+843C>T NP_542377.1:n.1009+843C>T
NM_080647.1:c.1466C>T , LRG_226t1:c.1466C>T NP_542378.1:p.Ser489Phe
XM_006724312.1:c.1466C>T XP_006724375.1:p.Ser489Phe
XM_011530351.1:c.1493C>T XP_011528653.1:p.Ser498Phe
XM_006724312.2:c.1466C>T XP_006724375.1:p.Ser489Phe
XM_017028925.1:c.1616C>T XP_016884414.1:p.Ser539Phe
XM_017028926.1:c.1466C>T XP_016884415.1:p.Ser489Phe
XM_017028927.1:c.821C>T XP_016884416.1:p.Ser274Phe
XM_017028928.1:c.1159+843C>T XP_016884417.1:n.1159+843C>T
NM_001379200.1:c.1493C>T MANE Select NP_001366129.1:p.Ser498Phe
NM_080646.2:c.1009+843C>T NP_542377.1:n.1009+843C>T