Canonical Allele Identifier: CA369519486

Gene: TBXAS1

Linked Data

• MyVariant Identifiers: chr7:g.139717473T>C (hg19) ; chr7:g.140017673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140017673T>C , CM000669.2:g.140017673T>C	GRCh38
NC_000007.13:g.139717473T>C , CM000669.1:g.139717473T>C	GRCh37
NC_000007.12:g.139363942T>C	NCBI36
NG_008422.2:g.244292T>C , LRG_579:g.244292T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336425.10:c.1367T>C	ENSP00000338087.7:p.Phe456Ser
ENST00000411653.6:c.1364+1813T>C	ENSP00000411326.3:n.1364+1813T>C
ENST00000422328.6:c.*1156T>C	ENSP00000415892.3:n.*1156T>C
ENST00000448866.7:c.1367T>C MANE Select	ENSP00000402536.3:p.Phe456Ser
ENST00000458722.6:c.1505T>C	ENSP00000411274.3:p.Phe502Ser
ENST00000650822.1:c.1370T>C	ENSP00000498517.1:p.Phe457Ser
ENST00000652056.1:c.1367+1813T>C	ENSP00000498271.1:n.1367+1813T>C
ENST00000263552.10:c.1370T>C	ENSP00000263552.6:p.Phe457Ser
ENST00000336425.9:c.1367T>C	ENSP00000338087.5:p.Phe456Ser
ENST00000411653.5:c.1364+1813T>C	ENSP00000411326.1:n.1364+1813T>C
ENST00000414508.6:c.1367+1813T>C	ENSP00000392702.2:n.1367+1813T>C
ENST00000416849.6:c.1508T>C	ENSP00000389414.2:p.Phe503Ser
ENST00000422328.5:c.*1156T>C	ENSP00000415892.1:n.*1156T>C
ENST00000425687.5:c.1166T>C	ENSP00000388736.1:p.Phe389Ser
ENST00000448866.5:c.1367T>C	ENSP00000402536.1:p.Phe456Ser
ENST00000458722.5:c.1505T>C	ENSP00000411274.1:p.Phe502Ser
NM_001061.4:c.1370T>C	NP_001052.2:p.Phe457Ser
NM_001130966.2:c.1370T>C , LRG_579t1:c.1370T>C	NP_001124438.1:p.Phe457Ser
NM_001166253.1:c.1508T>C , LRG_579t4:c.1508T>C	NP_001159725.1:p.Phe503Ser
NM_001166254.1:c.1166T>C , LRG_579t3:c.1166T>C	NP_001159726.1:p.Phe389Ser
NM_001314028.1:c.1310T>C	NP_001300957.1:p.Phe437Ser
NM_030984.3:c.1367+1813T>C , LRG_579t2:c.1367+1813T>C	NP_112246.2:n.1367+1813T>C
NR_029394.1:c.-4294965662T>C
NM_001061.5:c.1367T>C	NP_001052.3:p.Phe456Ser
NM_001130966.3:c.1367T>C	NP_001124438.2:p.Phe456Ser
NM_001166253.2:c.1505T>C	NP_001159725.2:p.Phe502Ser
NM_001166254.2:c.1166T>C	NP_001159726.1:p.Phe389Ser
NM_001314028.2:c.1310T>C	NP_001300957.1:p.Phe437Ser
NM_001366537.1:c.1184T>C	NP_001353466.1:p.Phe395Ser
NM_030984.4:c.1364+1813T>C	NP_112246.3:n.1364+1813T>C
XM_024446901.1:c.1112T>C	XP_024302669.1:p.Phe371Ser
NM_001061.7:c.1367T>C MANE Select	NP_001052.3:p.Phe456Ser
NM_001130966.4:c.1367T>C	NP_001124438.2:p.Phe456Ser
NM_001166253.3:c.1505T>C	NP_001159725.2:p.Phe502Ser
NM_001166254.3:c.1166T>C	NP_001159726.1:p.Phe389Ser
NM_001314028.3:c.1310T>C	NP_001300957.1:p.Phe437Ser
NM_001366537.2:c.1184T>C	NP_001353466.1:p.Phe395Ser
NM_030984.5:c.1364+1813T>C	NP_112246.3:n.1364+1813T>C
NM_001130966.5:c.1367T>C	NP_001124438.2:p.Phe456Ser
NM_001166253.4:c.1505T>C	NP_001159725.2:p.Phe502Ser
NM_001166254.4:c.1166T>C	NP_001159726.1:p.Phe389Ser
NM_001314028.4:c.1310T>C	NP_001300957.1:p.Phe437Ser
NM_001366537.3:c.1184T>C	NP_001353466.1:p.Phe395Ser
NM_030984.6:c.1364+1813T>C	NP_112246.3:n.1364+1813T>C