Canonical Allele Identifier: CA410684860

Gene: TBX1

Linked Data

• gnomAD v4: 22-19766644-C-A
• MyVariant Identifiers: chr22:g.19754167C>A (hg19) ; chr22:g.19766644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766644C>A , CM000684.2:g.19766644C>A	GRCh38
NC_000022.10:g.19754167C>A , CM000684.1:g.19754167C>A	GRCh37
NC_000022.9:g.18134167C>A	NCBI36
NG_009229.1:g.14942C>A , LRG_226:g.14942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1292C>A MANE Select	ENSP00000497003.1:p.Ala431Asp
ENST00000329705.11:c.1009+642C>A	ENSP00000331176.7:n.1009+642C>A
ENST00000332710.8:c.1265C>A	ENSP00000331791.4:p.Ala422Asp
ENST00000359500.7:c.1009+642C>A	ENSP00000352483.3:n.1009+642C>A
ENST00000621939.1:c.1009+642C>A	ENSP00000477982.1:n.1009+642C>A
NM_005992.1:c.1009+642C>A	NP_005983.1:n.1009+642C>A
NM_080646.1:c.1009+642C>A	NP_542377.1:n.1009+642C>A
NM_080647.1:c.1265C>A , LRG_226t1:c.1265C>A	NP_542378.1:p.Ala422Asp
XM_006724312.1:c.1265C>A	XP_006724375.1:p.Ala422Asp
XM_011530351.1:c.1292C>A	XP_011528653.1:p.Ala431Asp
XM_006724312.2:c.1265C>A	XP_006724375.1:p.Ala422Asp
XM_017028925.1:c.1415C>A	XP_016884414.1:p.Ala472Asp
XM_017028926.1:c.1265C>A	XP_016884415.1:p.Ala422Asp
XM_017028927.1:c.620C>A	XP_016884416.1:p.Ala207Asp
XM_017028928.1:c.1159+642C>A	XP_016884417.1:n.1159+642C>A
NM_001379200.1:c.1292C>A MANE Select	NP_001366129.1:p.Ala431Asp
NM_080646.2:c.1009+642C>A	NP_542377.1:n.1009+642C>A