Canonical Allele Identifier: CA006339

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48943
• ClinVar RCV Id: RCV000042194 ; RCV000201048 ; RCV000415379 ; RCV000491852 ; RCV000519452
• dbSNP Id: rs118203682
• COSMIC: COSM1645181
• MyVariant Identifiers: chr9:g.135778027G>A (hg19) ; chr9:g.132902640G>A (hg38)
• PubMed: PMID:9242607 ; PMID:9803264 ; PMID:9863590 ; PMID:9924605 ; PMID:10227394 ; PMID:10363127 ; PMID:10533067 ; PMID:11112665 ; PMID:16981987 ; PMID:17304050

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902640G>A , CM000671.2:g.132902640G>A	GRCh38
NC_000009.11:g.135778027G>A , CM000671.1:g.135778027G>A	GRCh37
NC_000009.10:g.134767848G>A	NCBI36
NG_012386.1:g.46994C>T , LRG_486:g.46994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2353C>T	ENSP00000496126.2:p.Arg785Ter
ENST00000490179.4:c.2356C>T	ENSP00000495533.2:p.Arg786Ter
ENST00000642261.2:c.*135C>T	ENSP00000494743.2:n.*135C>T
ENST00000643275.2:c.*296C>T	ENSP00000495598.2:n.*296C>T
ENST00000643362.2:c.1969C>T	ENSP00000496398.2:p.Arg657Ter
ENST00000643625.2:c.*98C>T	ENSP00000495546.2:n.*98C>T
ENST00000643691.2:c.1993C>T	ENSP00000494916.2:p.Arg665Ter
ENST00000644184.2:c.2356C>T	ENSP00000495428.2:p.Arg786Ter
ENST00000645129.2:c.2200C>T	ENSP00000493639.2:p.Arg734Ter
ENST00000646440.2:c.2356C>T	ENSP00000495830.2:p.Arg786Ter
ENST00000298552.9:c.2356C>T MANE Select	ENSP00000298552.3:p.Arg786Ter
ENST00000642261.1:c.416C>T
ENST00000642617.1:c.2353C>T	ENSP00000493773.1:p.Arg785Ter
ENST00000642627.1:c.2338C>T	ENSP00000496772.1:p.Arg780Ter
ENST00000642811.1:c.*2126C>T	ENSP00000495554.1:n.*2126C>T
ENST00000643072.1:c.2203C>T	ENSP00000496691.1:p.Arg735Ter
ENST00000643275.1:c.830C>T	ENSP00000495598.1:n.830C>T
ENST00000643583.1:c.2341C>T	ENSP00000494685.1:p.Arg781Ter
ENST00000643625.1:c.233C>T	ENSP00000495546.1:n.233C>T
ENST00000643875.1:c.2356C>T	ENSP00000495158.1:p.Arg786Ter
ENST00000644097.1:c.2353C>T	ENSP00000494682.1:p.Arg785Ter
ENST00000644184.1:c.1093C>T	ENSP00000495428.1:p.Arg365Ter
ENST00000644255.1:c.*2123C>T	ENSP00000493608.1:n.*2123C>T
ENST00000644319.1:n.2731C>T
ENST00000644882.1:n.1311C>T
ENST00000645901.1:n.3207C>T
ENST00000646391.1:c.*2126C>T	ENSP00000494104.1:n.*2126C>T
ENST00000646625.1:c.2356C>T	ENSP00000496263.1:p.Arg786Ter
ENST00000647262.1:n.1321C>T
ENST00000647279.1:c.*1595C>T	ENSP00000494502.1:n.*1595C>T
ENST00000647506.1:n.3232C>T
ENST00000647534.1:n.1420C>T
ENST00000298552.7:c.2356C>T	ENSP00000298552.3:p.Arg786Ter
ENST00000440111.6:c.2356C>T	ENSP00000394524.2:p.Arg786Ter
ENST00000545250.5:c.2203C>T	ENSP00000444017.1:p.Arg735Ter
NM_000368.4:c.2356C>T , LRG_486t1:c.2356C>T	NP_000359.1:p.Arg786Ter
NM_001162426.1:c.2353C>T	NP_001155898.1:p.Arg785Ter
NM_001162427.1:c.2203C>T	NP_001155899.1:p.Arg735Ter
XM_005272211.1:c.2356C>T	XP_005272268.1:p.Arg786Ter
XM_006717271.1:c.2356C>T	XP_006717334.1:p.Arg786Ter
XM_011518979.1:c.2356C>T	XP_011517281.1:p.Arg786Ter
NM_001362177.1:c.1993C>T	NP_001349106.1:p.Arg665Ter
XM_011518979.2:c.2356C>T	XP_011517281.1:p.Arg786Ter
XM_017015096.1:c.2356C>T	XP_016870585.1:p.Arg786Ter
XM_017015097.1:c.2356C>T	XP_016870586.1:p.Arg786Ter
XM_017015098.1:c.2353C>T	XP_016870587.1:p.Arg785Ter
XM_017015100.1:c.1993C>T	XP_016870589.1:p.Arg665Ter
XM_017015101.1:c.1990C>T	XP_016870590.1:p.Arg664Ter
NM_000368.5:c.2356C>T MANE Select	NP_000359.1:p.Arg786Ter
NM_001162426.2:c.2353C>T	NP_001155898.1:p.Arg785Ter
NM_001162427.2:c.2203C>T	NP_001155899.1:p.Arg735Ter
NM_001362177.2:c.1993C>T	NP_001349106.1:p.Arg665Ter