Canonical Allele Identifier: CA375366503

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2662711
• ClinVar RCV Id: RCV003441376
• dbSNP Id: rs2131591349
• MyVariant Identifiers: chr9:g.135771742C>G (hg19) ; chr9:g.132896355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896355C>G , CM000671.2:g.132896355C>G	GRCh38
NC_000009.11:g.135771742C>G , CM000671.1:g.135771742C>G	GRCh37
NC_000009.10:g.134761563C>G	NCBI36
NG_012386.1:g.53279G>C , LRG_486:g.53279G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.3372G>C	ENSP00000496126.2:p.Leu1124Phe
ENST00000490179.4:c.3375G>C	ENSP00000495533.2:p.Leu1125Phe
ENST00000642261.2:c.*1231G>C	ENSP00000494743.2:n.*1231G>C
ENST00000643275.2:c.*1315G>C	ENSP00000495598.2:n.*1315G>C
ENST00000643362.2:c.2988G>C	ENSP00000496398.2:p.Leu996Phe
ENST00000643625.2:c.*1117G>C	ENSP00000495546.2:n.*1117G>C
ENST00000643691.2:c.3012G>C	ENSP00000494916.2:p.Leu1004Phe
ENST00000644184.2:c.3333G>C	ENSP00000495428.2:p.Leu1111Phe
ENST00000645129.2:c.3219G>C	ENSP00000493639.2:p.Leu1073Phe
ENST00000646440.2:c.3375G>C	ENSP00000495830.2:p.Leu1125Phe
ENST00000298552.9:c.3375G>C MANE Select	ENSP00000298552.3:p.Leu1125Phe
ENST00000642617.1:c.3372G>C	ENSP00000493773.1:p.Leu1124Phe
ENST00000642627.1:c.3357G>C	ENSP00000496772.1:p.Leu1119Phe
ENST00000642811.1:c.*3145G>C	ENSP00000495554.1:n.*3145G>C
ENST00000643072.1:c.3222G>C	ENSP00000496691.1:p.Leu1074Phe
ENST00000643583.1:c.3360G>C	ENSP00000494685.1:p.Leu1120Phe
ENST00000643625.1:c.1252G>C	ENSP00000495546.1:n.1252G>C
ENST00000643875.1:c.3375G>C	ENSP00000495158.1:p.Leu1125Phe
ENST00000644097.1:c.3372G>C	ENSP00000494682.1:p.Leu1124Phe
ENST00000644184.1:c.2070G>C	ENSP00000495428.1:p.Leu690Phe
ENST00000644255.1:c.*3142G>C	ENSP00000493608.1:n.*3142G>C
ENST00000644319.1:n.3750G>C
ENST00000644786.1:n.1034G>C
ENST00000644882.1:n.2283G>C
ENST00000645901.1:n.4226G>C
ENST00000646391.1:c.*3145G>C	ENSP00000494104.1:n.*3145G>C
ENST00000646625.1:c.3375G>C	ENSP00000496263.1:p.Leu1125Phe
ENST00000647262.1:n.2340G>C
ENST00000647279.1:c.*2614G>C	ENSP00000494502.1:n.*2614G>C
ENST00000647534.1:n.2439G>C
ENST00000298552.7:c.3375G>C	ENSP00000298552.3:p.Leu1125Phe
ENST00000440111.6:c.3375G>C	ENSP00000394524.2:p.Leu1125Phe
ENST00000545250.5:c.3222G>C	ENSP00000444017.1:p.Leu1074Phe
NM_000368.4:c.3375G>C , LRG_486t1:c.3375G>C	NP_000359.1:p.Leu1125Phe
NM_001162426.1:c.3372G>C	NP_001155898.1:p.Leu1124Phe
NM_001162427.1:c.3222G>C	NP_001155899.1:p.Leu1074Phe
XM_005272211.1:c.3375G>C	XP_005272268.1:p.Leu1125Phe
XM_006717271.1:c.3375G>C	XP_006717334.1:p.Leu1125Phe
XM_011518979.1:c.3375G>C	XP_011517281.1:p.Leu1125Phe
NM_001362177.1:c.3012G>C	NP_001349106.1:p.Leu1004Phe
XM_011518979.2:c.3375G>C	XP_011517281.1:p.Leu1125Phe
XM_017015096.1:c.3375G>C	XP_016870585.1:p.Leu1125Phe
XM_017015097.1:c.3375G>C	XP_016870586.1:p.Leu1125Phe
XM_017015098.1:c.3372G>C	XP_016870587.1:p.Leu1124Phe
XM_017015100.1:c.3012G>C	XP_016870589.1:p.Leu1004Phe
XM_017015101.1:c.3009G>C	XP_016870590.1:p.Leu1003Phe
NM_000368.5:c.3375G>C MANE Select	NP_000359.1:p.Leu1125Phe
NM_001162426.2:c.3372G>C	NP_001155898.1:p.Leu1124Phe
NM_001162427.2:c.3222G>C	NP_001155899.1:p.Leu1074Phe
NM_001362177.2:c.3012G>C	NP_001349106.1:p.Leu1004Phe