Canonical Allele Identifier: CA467590692

Gene: TSC1

Linked Data

• dbSNP Id: rs1445358121
• gnomAD v2: 9-135779094-G-T
• MyVariant Identifiers: chr9:g.135779094G>T (hg19) ; chr9:g.132903707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903707G>T , CM000671.2:g.132903707G>T	GRCh38
NC_000009.11:g.135779094G>T , CM000671.1:g.135779094G>T	GRCh37
NC_000009.10:g.134768915G>T	NCBI36
NG_012386.1:g.45927C>A , LRG_486:g.45927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2149C>A	ENSP00000496126.2:p.Arg717=
ENST00000490179.4:c.2152C>A	ENSP00000495533.2:p.Arg718=
ENST00000642261.2:c.2152C>A	ENSP00000494743.2:p.Arg718=
ENST00000643275.2:c.*92C>A	ENSP00000495598.2:n.*92C>A
ENST00000643362.2:c.1765C>A	ENSP00000496398.2:p.Arg589=
ENST00000643625.2:c.2041+704C>A	ENSP00000495546.2:n.2041+704C>A
ENST00000643691.2:c.1789C>A	ENSP00000494916.2:p.Arg597=
ENST00000644184.2:c.2152C>A	ENSP00000495428.2:p.Arg718=
ENST00000645129.2:c.1996C>A	ENSP00000493639.2:p.Arg666=
ENST00000646440.2:c.2152C>A	ENSP00000495830.2:p.Arg718=
ENST00000298552.9:c.2152C>A MANE Select	ENSP00000298552.3:p.Arg718=
ENST00000642261.1:c.216C>A
ENST00000642617.1:c.2149C>A	ENSP00000493773.1:p.Arg717=
ENST00000642627.1:c.2134C>A	ENSP00000496772.1:p.Arg712=
ENST00000642811.1:c.*1922C>A	ENSP00000495554.1:n.*1922C>A
ENST00000643072.1:c.1999C>A	ENSP00000496691.1:p.Arg667=
ENST00000643275.1:c.626C>A	ENSP00000495598.1:n.626C>A
ENST00000643583.1:c.2137C>A	ENSP00000494685.1:p.Arg713=
ENST00000643625.1:c.85+704C>A	ENSP00000495546.1:n.85+704C>A
ENST00000643875.1:c.2152C>A	ENSP00000495158.1:p.Arg718=
ENST00000644097.1:c.2149C>A	ENSP00000494682.1:p.Arg717=
ENST00000644184.1:c.889C>A	ENSP00000495428.1:p.Arg297=
ENST00000644255.1:c.*1919C>A	ENSP00000493608.1:n.*1919C>A
ENST00000644319.1:n.2527C>A
ENST00000644882.1:n.1107C>A
ENST00000645901.1:n.3003C>A
ENST00000646391.1:c.*1922C>A	ENSP00000494104.1:n.*1922C>A
ENST00000646625.1:c.2152C>A	ENSP00000496263.1:p.Arg718=
ENST00000647262.1:n.1117C>A
ENST00000647279.1:c.*1391C>A	ENSP00000494502.1:n.*1391C>A
ENST00000647506.1:n.3028C>A
ENST00000647534.1:n.1216C>A
ENST00000298552.7:c.2152C>A	ENSP00000298552.3:p.Arg718=
ENST00000440111.6:c.2152C>A	ENSP00000394524.2:p.Arg718=
ENST00000545250.5:c.1999C>A	ENSP00000444017.1:p.Arg667=
NM_000368.4:c.2152C>A , LRG_486t1:c.2152C>A	NP_000359.1:p.Arg718=
NM_001162426.1:c.2149C>A	NP_001155898.1:p.Arg717=
NM_001162427.1:c.1999C>A	NP_001155899.1:p.Arg667=
XM_005272211.1:c.2152C>A	XP_005272268.1:p.Arg718=
XM_006717271.1:c.2152C>A	XP_006717334.1:p.Arg718=
XM_011518979.1:c.2152C>A	XP_011517281.1:p.Arg718=
NM_001362177.1:c.1789C>A	NP_001349106.1:p.Arg597=
XM_011518979.2:c.2152C>A	XP_011517281.1:p.Arg718=
XM_017015096.1:c.2152C>A	XP_016870585.1:p.Arg718=
XM_017015097.1:c.2152C>A	XP_016870586.1:p.Arg718=
XM_017015098.1:c.2149C>A	XP_016870587.1:p.Arg717=
XM_017015100.1:c.1789C>A	XP_016870589.1:p.Arg597=
XM_017015101.1:c.1786C>A	XP_016870590.1:p.Arg596=
NM_000368.5:c.2152C>A MANE Select	NP_000359.1:p.Arg718=
NM_001162426.2:c.2149C>A	NP_001155898.1:p.Arg717=
NM_001162427.2:c.1999C>A	NP_001155899.1:p.Arg667=
NM_001362177.2:c.1789C>A	NP_001349106.1:p.Arg597=