Canonical Allele Identifier: CA369585576

Gene: TBXAS1

Linked Data

• MyVariant Identifiers: chr7:g.139662009G>T (hg19) ; chr7:g.139962210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962210G>T , CM000669.2:g.139962210G>T	GRCh38
NC_000007.13:g.139662009G>T , CM000669.1:g.139662009G>T	GRCh37
NC_000007.12:g.139308478G>T	NCBI36
NG_008422.2:g.188829G>T , LRG_579:g.188829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.1111G>T	ENSP00000338087.7:p.Val371Leu
ENST00000411653.6:c.1111G>T	ENSP00000411326.3:p.Val371Leu
ENST00000422328.6:c.*900G>T	ENSP00000415892.3:n.*900G>T
ENST00000448866.7:c.1111G>T MANE Select	ENSP00000402536.3:p.Val371Leu
ENST00000458722.6:c.1249G>T	ENSP00000411274.3:p.Val417Leu
ENST00000650822.1:c.1114G>T	ENSP00000498517.1:p.Val372Leu
ENST00000652056.1:c.1114G>T	ENSP00000498271.1:p.Val372Leu
ENST00000263552.10:c.1114G>T	ENSP00000263552.6:p.Val372Leu
ENST00000336425.9:c.1111G>T	ENSP00000338087.5:p.Val371Leu
ENST00000411653.5:c.1111G>T	ENSP00000411326.1:p.Val371Leu
ENST00000414508.6:c.1114G>T	ENSP00000392702.2:p.Val372Leu
ENST00000416849.6:c.1252G>T	ENSP00000389414.2:p.Val418Leu
ENST00000422328.5:c.*900G>T	ENSP00000415892.1:n.*900G>T
ENST00000425687.5:c.910G>T	ENSP00000388736.1:p.Val304Leu
ENST00000448866.5:c.1111G>T	ENSP00000402536.1:p.Val371Leu
ENST00000458722.5:c.1249G>T	ENSP00000411274.1:p.Val417Leu
ENST00000462275.5:n.1082G>T
ENST00000469630.1:n.594G>T
ENST00000494876.1:n.476G>T
NM_001061.4:c.1114G>T	NP_001052.2:p.Val372Leu
NM_001130966.2:c.1114G>T , LRG_579t1:c.1114G>T	NP_001124438.1:p.Val372Leu
NM_001166253.1:c.1252G>T , LRG_579t4:c.1252G>T	NP_001159725.1:p.Val418Leu
NM_001166254.1:c.910G>T , LRG_579t3:c.910G>T	NP_001159726.1:p.Val304Leu
NM_001314028.1:c.1054G>T	NP_001300957.1:p.Val352Leu
NM_030984.3:c.1114G>T , LRG_579t2:c.1114G>T	NP_112246.2:p.Val372Leu
NR_029394.1:c.-4294965918G>T
XM_011516544.1:c.1114G>T	XP_011514846.1:p.Val372Leu
NM_001061.5:c.1111G>T	NP_001052.3:p.Val371Leu
NM_001130966.3:c.1111G>T	NP_001124438.2:p.Val371Leu
NM_001166253.2:c.1249G>T	NP_001159725.2:p.Val417Leu
NM_001166254.2:c.910G>T	NP_001159726.1:p.Val304Leu
NM_001314028.2:c.1054G>T	NP_001300957.1:p.Val352Leu
NM_001366537.1:c.928G>T	NP_001353466.1:p.Val310Leu
NM_030984.4:c.1111G>T	NP_112246.3:p.Val371Leu
XM_011516544.3:c.1114G>T	XP_011514846.1:p.Val372Leu
XM_017012570.2:c.1114G>T	XP_016868059.1:p.Val372Leu
XM_017012571.2:c.1114G>T	XP_016868060.1:p.Val372Leu
XM_017012572.2:c.1114G>T	XP_016868061.1:p.Val372Leu
XM_024446901.1:c.856G>T	XP_024302669.1:p.Val286Leu
NM_001061.7:c.1111G>T MANE Select	NP_001052.3:p.Val371Leu
NM_001130966.4:c.1111G>T	NP_001124438.2:p.Val371Leu
NM_001166253.3:c.1249G>T	NP_001159725.2:p.Val417Leu
NM_001166254.3:c.910G>T	NP_001159726.1:p.Val304Leu
NM_001314028.3:c.1054G>T	NP_001300957.1:p.Val352Leu
NM_001366537.2:c.928G>T	NP_001353466.1:p.Val310Leu
NM_030984.5:c.1111G>T	NP_112246.3:p.Val371Leu
NM_001130966.5:c.1111G>T	NP_001124438.2:p.Val371Leu
NM_001166253.4:c.1249G>T	NP_001159725.2:p.Val417Leu
NM_001166254.4:c.910G>T	NP_001159726.1:p.Val304Leu
NM_001314028.4:c.1054G>T	NP_001300957.1:p.Val352Leu
NM_001366537.3:c.928G>T	NP_001353466.1:p.Val310Leu
NM_030984.6:c.1111G>T	NP_112246.3:p.Val371Leu