Canonical Allele Identifier: CA513361407

Gene: TBX1

Linked Data

• dbSNP Id: rs1240710201
• gnomAD v2: 22-19752558-A-G
• MyVariant Identifiers: chr22:g.19752558A>G (hg19) ; chr22:g.19765035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765035A>G , CM000684.2:g.19765035A>G	GRCh38
NC_000022.10:g.19752558A>G , CM000684.1:g.19752558A>G	GRCh37
NC_000022.9:g.18132558A>G	NCBI36
NG_009229.1:g.13333A>G , LRG_226:g.13333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.315A>G	ENSP00000514909.1:p.Lys105=
ENST00000649276.2:c.789A>G MANE Select	ENSP00000497003.1:p.Lys263=
ENST00000329705.11:c.762A>G	ENSP00000331176.7:p.Lys254=
ENST00000332710.8:c.762A>G	ENSP00000331791.4:p.Lys254=
ENST00000359500.7:c.762A>G	ENSP00000352483.3:p.Lys254=
ENST00000621939.1:c.762A>G	ENSP00000477982.1:p.Lys254=
NM_005992.1:c.762A>G	NP_005983.1:p.Lys254=
NM_080646.1:c.762A>G	NP_542377.1:p.Lys254=
NM_080647.1:c.762A>G , LRG_226t1:c.762A>G	NP_542378.1:p.Lys254=
XM_006724312.1:c.762A>G	XP_006724375.1:p.Lys254=
XM_011530351.1:c.789A>G	XP_011528653.1:p.Lys263=
XM_006724312.2:c.762A>G	XP_006724375.1:p.Lys254=
XM_017028925.1:c.912A>G	XP_016884414.1:p.Lys304=
XM_017028926.1:c.762A>G	XP_016884415.1:p.Lys254=
XM_017028927.1:c.63A>G	XP_016884416.1:p.Lys21=
XM_017028928.1:c.912A>G	XP_016884417.1:p.Lys304=
NM_001379200.1:c.789A>G MANE Select	NP_001366129.1:p.Lys263=
NM_080646.2:c.762A>G	NP_542377.1:p.Lys254=