Canonical Allele Identifier: CA410685583

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2652870
• ClinVar RCV Id: RCV003431629
• gnomAD v4: 22-19766805-G-C
• MyVariant Identifiers: chr22:g.19754328G>C (hg19) ; chr22:g.19766805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766805G>C , CM000684.2:g.19766805G>C	GRCh38
NC_000022.10:g.19754328G>C , CM000684.1:g.19754328G>C	GRCh37
NC_000022.9:g.18134328G>C	NCBI36
NG_009229.1:g.15103G>C , LRG_226:g.15103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1453G>C MANE Select	ENSP00000497003.1:p.Ala485Pro
ENST00000329705.11:c.1009+803G>C	ENSP00000331176.7:n.1009+803G>C
ENST00000332710.8:c.1426G>C	ENSP00000331791.4:p.Ala476Pro
ENST00000359500.7:c.1009+803G>C	ENSP00000352483.3:n.1009+803G>C
ENST00000621939.1:c.1009+803G>C	ENSP00000477982.1:n.1009+803G>C
NM_005992.1:c.1009+803G>C	NP_005983.1:n.1009+803G>C
NM_080646.1:c.1009+803G>C	NP_542377.1:n.1009+803G>C
NM_080647.1:c.1426G>C , LRG_226t1:c.1426G>C	NP_542378.1:p.Ala476Pro
XM_006724312.1:c.1426G>C	XP_006724375.1:p.Ala476Pro
XM_011530351.1:c.1453G>C	XP_011528653.1:p.Ala485Pro
XM_006724312.2:c.1426G>C	XP_006724375.1:p.Ala476Pro
XM_017028925.1:c.1576G>C	XP_016884414.1:p.Ala526Pro
XM_017028926.1:c.1426G>C	XP_016884415.1:p.Ala476Pro
XM_017028927.1:c.781G>C	XP_016884416.1:p.Ala261Pro
XM_017028928.1:c.1159+803G>C	XP_016884417.1:n.1159+803G>C
NM_001379200.1:c.1453G>C MANE Select	NP_001366129.1:p.Ala485Pro
NM_080646.2:c.1009+803G>C	NP_542377.1:n.1009+803G>C