Canonical Allele Identifier: CA369519452

Gene: TBXAS1

Linked Data

• MyVariant Identifiers: chr7:g.139717472T>C (hg19) ; chr7:g.140017672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140017672T>C , CM000669.2:g.140017672T>C	GRCh38
NC_000007.13:g.139717472T>C , CM000669.1:g.139717472T>C	GRCh37
NC_000007.12:g.139363941T>C	NCBI36
NG_008422.2:g.244291T>C , LRG_579:g.244291T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336425.10:c.1366T>C	ENSP00000338087.7:p.Phe456Leu
ENST00000411653.6:c.1364+1812T>C	ENSP00000411326.3:n.1364+1812T>C
ENST00000422328.6:c.*1155T>C	ENSP00000415892.3:n.*1155T>C
ENST00000448866.7:c.1366T>C MANE Select	ENSP00000402536.3:p.Phe456Leu
ENST00000458722.6:c.1504T>C	ENSP00000411274.3:p.Phe502Leu
ENST00000650822.1:c.1369T>C	ENSP00000498517.1:p.Phe457Leu
ENST00000652056.1:c.1367+1812T>C	ENSP00000498271.1:n.1367+1812T>C
ENST00000263552.10:c.1369T>C	ENSP00000263552.6:p.Phe457Leu
ENST00000336425.9:c.1366T>C	ENSP00000338087.5:p.Phe456Leu
ENST00000411653.5:c.1364+1812T>C	ENSP00000411326.1:n.1364+1812T>C
ENST00000414508.6:c.1367+1812T>C	ENSP00000392702.2:n.1367+1812T>C
ENST00000416849.6:c.1507T>C	ENSP00000389414.2:p.Phe503Leu
ENST00000422328.5:c.*1155T>C	ENSP00000415892.1:n.*1155T>C
ENST00000425687.5:c.1165T>C	ENSP00000388736.1:p.Phe389Leu
ENST00000448866.5:c.1366T>C	ENSP00000402536.1:p.Phe456Leu
ENST00000458722.5:c.1504T>C	ENSP00000411274.1:p.Phe502Leu
NM_001061.4:c.1369T>C	NP_001052.2:p.Phe457Leu
NM_001130966.2:c.1369T>C , LRG_579t1:c.1369T>C	NP_001124438.1:p.Phe457Leu
NM_001166253.1:c.1507T>C , LRG_579t4:c.1507T>C	NP_001159725.1:p.Phe503Leu
NM_001166254.1:c.1165T>C , LRG_579t3:c.1165T>C	NP_001159726.1:p.Phe389Leu
NM_001314028.1:c.1309T>C	NP_001300957.1:p.Phe437Leu
NM_030984.3:c.1367+1812T>C , LRG_579t2:c.1367+1812T>C	NP_112246.2:n.1367+1812T>C
NR_029394.1:c.-4294965663T>C
NM_001061.5:c.1366T>C	NP_001052.3:p.Phe456Leu
NM_001130966.3:c.1366T>C	NP_001124438.2:p.Phe456Leu
NM_001166253.2:c.1504T>C	NP_001159725.2:p.Phe502Leu
NM_001166254.2:c.1165T>C	NP_001159726.1:p.Phe389Leu
NM_001314028.2:c.1309T>C	NP_001300957.1:p.Phe437Leu
NM_001366537.1:c.1183T>C	NP_001353466.1:p.Phe395Leu
NM_030984.4:c.1364+1812T>C	NP_112246.3:n.1364+1812T>C
XM_024446901.1:c.1111T>C	XP_024302669.1:p.Phe371Leu
NM_001061.7:c.1366T>C MANE Select	NP_001052.3:p.Phe456Leu
NM_001130966.4:c.1366T>C	NP_001124438.2:p.Phe456Leu
NM_001166253.3:c.1504T>C	NP_001159725.2:p.Phe502Leu
NM_001166254.3:c.1165T>C	NP_001159726.1:p.Phe389Leu
NM_001314028.3:c.1309T>C	NP_001300957.1:p.Phe437Leu
NM_001366537.2:c.1183T>C	NP_001353466.1:p.Phe395Leu
NM_030984.5:c.1364+1812T>C	NP_112246.3:n.1364+1812T>C
NM_001130966.5:c.1366T>C	NP_001124438.2:p.Phe456Leu
NM_001166253.4:c.1504T>C	NP_001159725.2:p.Phe502Leu
NM_001166254.4:c.1165T>C	NP_001159726.1:p.Phe389Leu
NM_001314028.4:c.1309T>C	NP_001300957.1:p.Phe437Leu
NM_001366537.3:c.1183T>C	NP_001353466.1:p.Phe395Leu
NM_030984.6:c.1364+1812T>C	NP_112246.3:n.1364+1812T>C