Canonical Allele Identifier: CA467590638

Gene: TSC1

Linked Data

• dbSNP Id: rs2131741120
• MyVariant Identifiers: chr9:g.135778159A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902772A>G , CM000671.2:g.132902772A>G	GRCh38
NC_000009.11:g.135778159A>G , CM000671.1:g.135778159A>G	GRCh37
NC_000009.10:g.134767980A>G	NCBI36
NG_012386.1:g.46862T>C , LRG_486:g.46862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2221T>C	ENSP00000496126.2:p.Leu741=
ENST00000490179.4:c.2224T>C	ENSP00000495533.2:p.Leu742=
ENST00000642261.2:c.*3T>C	ENSP00000494743.2:n.*3T>C
ENST00000643275.2:c.*164T>C	ENSP00000495598.2:n.*164T>C
ENST00000643362.2:c.1837T>C	ENSP00000496398.2:p.Leu613=
ENST00000643625.2:c.2057T>C	ENSP00000495546.2:p.Val686Ala
ENST00000643691.2:c.1861T>C	ENSP00000494916.2:p.Leu621=
ENST00000644184.2:c.2224T>C	ENSP00000495428.2:p.Leu742=
ENST00000645129.2:c.2068T>C	ENSP00000493639.2:p.Leu690=
ENST00000646440.2:c.2224T>C	ENSP00000495830.2:p.Leu742=
ENST00000298552.9:c.2224T>C MANE Select	ENSP00000298552.3:p.Leu742=
ENST00000642261.1:c.284T>C
ENST00000642617.1:c.2221T>C	ENSP00000493773.1:p.Leu741=
ENST00000642627.1:c.2206T>C	ENSP00000496772.1:p.Leu736=
ENST00000642811.1:c.*1994T>C	ENSP00000495554.1:n.*1994T>C
ENST00000643072.1:c.2071T>C	ENSP00000496691.1:p.Leu691=
ENST00000643275.1:c.698T>C	ENSP00000495598.1:n.698T>C
ENST00000643583.1:c.2209T>C	ENSP00000494685.1:p.Leu737=
ENST00000643625.1:c.101T>C	ENSP00000495546.1:p.Val34Ala
ENST00000643875.1:c.2224T>C	ENSP00000495158.1:p.Leu742=
ENST00000644097.1:c.2221T>C	ENSP00000494682.1:p.Leu741=
ENST00000644184.1:c.961T>C	ENSP00000495428.1:p.Leu321=
ENST00000644255.1:c.*1991T>C	ENSP00000493608.1:n.*1991T>C
ENST00000644319.1:n.2599T>C
ENST00000644882.1:n.1179T>C
ENST00000645901.1:n.3075T>C
ENST00000646391.1:c.*1994T>C	ENSP00000494104.1:n.*1994T>C
ENST00000646625.1:c.2224T>C	ENSP00000496263.1:p.Leu742=
ENST00000647262.1:n.1189T>C
ENST00000647279.1:c.*1463T>C	ENSP00000494502.1:n.*1463T>C
ENST00000647506.1:n.3100T>C
ENST00000647534.1:n.1288T>C
ENST00000298552.7:c.2224T>C	ENSP00000298552.3:p.Leu742=
ENST00000440111.6:c.2224T>C	ENSP00000394524.2:p.Leu742=
ENST00000545250.5:c.2071T>C	ENSP00000444017.1:p.Leu691=
NM_000368.4:c.2224T>C , LRG_486t1:c.2224T>C	NP_000359.1:p.Leu742=
NM_001162426.1:c.2221T>C	NP_001155898.1:p.Leu741=
NM_001162427.1:c.2071T>C	NP_001155899.1:p.Leu691=
XM_005272211.1:c.2224T>C	XP_005272268.1:p.Leu742=
XM_006717271.1:c.2224T>C	XP_006717334.1:p.Leu742=
XM_011518979.1:c.2224T>C	XP_011517281.1:p.Leu742=
NM_001362177.1:c.1861T>C	NP_001349106.1:p.Leu621=
XM_011518979.2:c.2224T>C	XP_011517281.1:p.Leu742=
XM_017015096.1:c.2224T>C	XP_016870585.1:p.Leu742=
XM_017015097.1:c.2224T>C	XP_016870586.1:p.Leu742=
XM_017015098.1:c.2221T>C	XP_016870587.1:p.Leu741=
XM_017015100.1:c.1861T>C	XP_016870589.1:p.Leu621=
XM_017015101.1:c.1858T>C	XP_016870590.1:p.Leu620=
NM_000368.5:c.2224T>C MANE Select	NP_000359.1:p.Leu742=
NM_001162426.2:c.2221T>C	NP_001155898.1:p.Leu741=
NM_001162427.2:c.2071T>C	NP_001155899.1:p.Leu691=
NM_001362177.2:c.1861T>C	NP_001349106.1:p.Leu621=