Canonical Allele Identifier: CA10102709

Gene: TBX1

Linked Data

• dbSNP Id: rs773715388
• ExAC: 22:19754199 C / G
• gnomAD v2: 22-19754199-C-G
• MyVariant Identifiers: chr22:g.19754199C>G (hg19) ; chr22:g.19766676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766676C>G , CM000684.2:g.19766676C>G	GRCh38
NC_000022.10:g.19754199C>G , CM000684.1:g.19754199C>G	GRCh37
NC_000022.9:g.18134199C>G	NCBI36
NG_009229.1:g.14974C>G , LRG_226:g.14974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1324C>G MANE Select	ENSP00000497003.1:p.Pro442Ala
ENST00000329705.11:c.1009+674C>G	ENSP00000331176.7:n.1009+674C>G
ENST00000332710.8:c.1297C>G	ENSP00000331791.4:p.Pro433Ala
ENST00000359500.7:c.1009+674C>G	ENSP00000352483.3:n.1009+674C>G
ENST00000621939.1:c.1009+674C>G	ENSP00000477982.1:n.1009+674C>G
NM_005992.1:c.1009+674C>G	NP_005983.1:n.1009+674C>G
NM_080646.1:c.1009+674C>G	NP_542377.1:n.1009+674C>G
NM_080647.1:c.1297C>G , LRG_226t1:c.1297C>G	NP_542378.1:p.Pro433Ala
XM_006724312.1:c.1297C>G	XP_006724375.1:p.Pro433Ala
XM_011530351.1:c.1324C>G	XP_011528653.1:p.Pro442Ala
XM_006724312.2:c.1297C>G	XP_006724375.1:p.Pro433Ala
XM_017028925.1:c.1447C>G	XP_016884414.1:p.Pro483Ala
XM_017028926.1:c.1297C>G	XP_016884415.1:p.Pro433Ala
XM_017028927.1:c.652C>G	XP_016884416.1:p.Pro218Ala
XM_017028928.1:c.1159+674C>G	XP_016884417.1:n.1159+674C>G
NM_001379200.1:c.1324C>G MANE Select	NP_001366129.1:p.Pro442Ala
NM_080646.2:c.1009+674C>G	NP_542377.1:n.1009+674C>G